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JIMD Reports - Case and Research Reports, 2012/4 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Case and Research Reports, 2012/4 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 |
| Descrizione fisica | 1 online resource (131 p.) |
| Disciplina |
616.3/9042
616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN |
1-283-63178-4
9786613944238 3-642-32442-8 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
JIMD Reports -Case and Research Reports, 2012/4; Contents; Necrotizing Enterocolitis and Respiratory Distress Syndromeas First Clinical Presentation of Mitochondrial TrifunctionalProtein Deficiency; Abstract; Introduction; Materials and Methods; Case 1; Case 2; Classification; Analytical Methods; Discussion; Synopsis; Conflict of Interest; References; Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?; Abstract; Introduction; Case Report; Discussion; References; Hereditary Intrinsic Factor Deficiency in Chaldeans; Abstract
IntroductionPatients and Methods; Patients and Samples; Methods; Results and Discussion; Declaration; Synopsis; Authors ́ Contributions; References to Electronic Databases; References; Mutation Analysis in Glycogen Storage DiseaseType III Patients in the Netherlands: NovelGenotype-Phenotype Relationships and FiveNovel Mutations in the AGL Gene; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflicts of Interest; References; Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency; Abstract; Introduction; Case Report; Discussion ReferencesQuality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease; Abstract; Introduction; Methods; Medical Outcomes Study: 36-Item Short Form Health Survey (SF-36); Statistical Analysis; Definition of Clinically Significant Change; Results; Gaucher Disease (n=21); Fabry Disease (n=14); Comparisons Between GD and FD Patients Receiving ERT and Other Populations; Discussion; Gaucher Disease; Fabry Disease; Conclusion; Synopsis of the Article; Authors Contributions; Guarantor for the Article; Competing Interest; Funding; Ethics Approval; Patient Consent; References Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseAbstract; Introduction; Material and Methods; Patients; GAA Mutational Analysis; Functional Analysis of GAA Mutations; Results; GAA Mutation Detection and In Silico Analysis; Functional Characterization of GAA Mutations; Discussion; References; Successful Live Birth following Preimplantation GeneticDiagnosis for Phenylketonuria in Day 3 Embryos by SpecificMutation Analysis and Elective Single Embryo Transfer; Abstract; Introduction; Materials and Methods; Results; Discussion SynopsisConflict of Interest; References; The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I; Abstract; Introduction; Methods; Results; Discussion; Synopsis; References to Electronic Databases; References; Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome; Introduction; Case Report; Discussion; Conclusions; Conflict of Interest Statement; References; Autism Spectrum Disorder in a Child with Propionic Acidemia; Abstract; Introduction; Case Report; Psychiatric Evaluation; Discussion; Synopsis Competing Interests |
| Record Nr. | UNINA-9910438005803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports - Case and Research Reports, 2012/5 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Case and Research Reports, 2012/5 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 |
| Descrizione fisica | 1 online resource (153 p.) |
| Disciplina | 616.3/9042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN |
1-283-91002-0
3-642-33433-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
JIMD Reports - Case and Research Reports, 2012/5; Contents; The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity; Abstract; Introduction; Materials and Methods; Ethics Statement; Subjects; Genotyping; Overexpression of ASM Variants; Western Blot Analysis; In Vitro Determination of ASM Activity; Web Resources; Results; High Frequency of ASM Sequence Variation c.1460C>T in the General Population; Carriers of c.1460C>T Do Not Display Decreased Levels of ASM Activity
ASM Variant p.A487V is Catalytically Active Upon Transient OverexpressionDiscussion; Author Contributions; References; The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE; Abstract; Introduction; Methods; Case Reports; Discussion; Conclusion; References; A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine; Abstract; Introduction; Methods; Preparation of the Study Reagents; Statistical Analysis; Results; Discussion; References; ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients; Abstract IntroductionPatients and Methods; Patients; Blood/Serum Transferrin IEF; ALG6 Mutation Analysis; Results; Clinical and Biochemical Description of Patients; Blood/Serum Transferrin IEF; ALG6 Mutational Analysis; Discussion; Competing Interests; References; Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?; Abstract; Introduction; Case Report; Discussion; Acknowledgments; References A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage DisordersAbstract; Background; Methods; Ethics Approvals; Participants; 3D Image Acquisition; Anthropometric Masks and Facial Mapping; Statistical Face-Space; Dysmorphometrics and Normal Equivalents; Scoring, Analysis and Visualisation of Facial Variants; Normative Population Reference Statistics; Results; Discussion; Conclusions; Authors ́ Information; Synopsis; Authors ́ Contributions; Guarantor; Competing Interests; References Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage DiseaseAbstract; Introduction; Case History; Discussion; Synopsis; Conflicts of Interest and Financial Disclosures; References; Inheritance of the m.3243A>G mutation; Abstract; Introduction; Methods; Results; Discussion; Conflicts of Interest; Key Sentence/Synopsis; References; Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage; Abstract; Background; Methods; Results and Discussion; ERT Current Situation; Basic Principles of Treatment Criteria for Prioritization |
| Record Nr. | UNINA-9910437993303321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports - Case and Research Reports, 2012/6 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Case and Research Reports, 2012/6 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 |
| Descrizione fisica | 1 online resource (140 p.) |
| Disciplina | 600 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN |
1-283-94503-7
3-642-35518-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
JIMD Reports -Case and Research Reports, 2012/6; Contents; Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency; Abstract; References; Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease; Abstract; Introduction; Materials and Methods; Patients; Sample Collection and DNA Isolation; Amplification of the Entire GBA Gene; Screening of Common Mutations; PCR Amplification and Direct DNA Sequencing; Isolation of Total RNA, cDNA Synthesis, and PCR Amplification; Evaluation of Novel Mutations; Nomenclature of Mutations; Results
DiscussionSynopsis; References; Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation; Abstract; Introduction; Methods; Patients and Data Collection; Odontoïd Dysplasia; Thoracolumbar Spine; Hip Dysplasia; Genu Valgum; Statistical Analysis; Results; Patients; Odontoïd Hypoplasia; Thoracolumbar Kyphosis; Scoliosis; Spinal Cord Involvement; Hip Dysplasia; Genu Valgum; Correlation Between Abnormalities; Discussion; Take-Home Message; Contribution of Individual Authors; Guarantor of the Article Competing Interests StatementDetails of Funding; References; Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4); Abstract; Introduction; Study Design; Subjects and Methods; Subjects; Methods; Assessment of Plasma Phe Concentrations; Assessment of Food and Nutrient Intake; Statistical Analysis; Results; Patient Characteristics; Metabolic Control and Phe Consumption; Food Consumption of BH4-Sensitive Patients; Macronutrient Intake of BH4-Sensitive Patients; Micronutrient Intake of BH4-Sensitive Patients; Discussion Take Home MessageReferences; Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease; Abstract; Introduction; Materials and Methods; Study Design; Patients; Treatments; Data Collection and Study End Points; cMRI Technique and Analysis; Safety; Statistical Analysis; Results; Patients; Renal Function; Cardiac Functional Parameters; Quality of Life; Pain Symptoms; Tolerability; Discussion; Conclusions; Appendix; Details of the Contributions of Individual Authors; Guarantor; Competing Interest Statement; Provide Details of Funding Details of Ethics Approval and Patient ConsentSynopsis; References; Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S; Abstract; Introduction; Subjects and Methods; Patients and Phenotypic Classification; Molecular Genetic Analysis; Results; Genotyping; Phenotypic Characterization; Genotype-Phenotype Correlation Study; BH4 Responsiveness; Discussion; Genotype-Phenotype Inconsistencies; BH4 Responsiveness in Serbia; Synopsis; References Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients |
| Record Nr. | UNINA-9910739419403321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports - Case and Research Reports, Volume 13 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Case and Research Reports, Volume 13 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (164 p.) |
| Disciplina |
616.3/9042
616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-642-54149-6 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
""Contents""; ""Newborn Screening for Glutaric Aciduria-II: The New England Experience""; ""Abstract""; ""Introduction""; ""Methods and Population""; ""Results""; ""Discussion""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent/Human or Animal Studies""; ""Authors Attestations""; ""References""; ""Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening...""; ""Abstract""; ""Introduction""; ""Washington Newborn Screening""; ""Analyte Selection and Review""; ""Cutoff Determinations""; ""Post-Analytical Tools""
""Limitations""""Conclusion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Animal Rights and Human Subjects""; ""Details of the Contributions of Individual Authors""; ""References""; ""Application of a Second-Tier Newborn Screening Assay for C5 Isoforms""; ""Abstract""; ""Introduction""; ""Case Report""; ""Materials and Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Details of the Contributions of Individual Authors""; ""References""; ""Cystinosis with Sclerotic Bone Lesions""; ""Abstract""; ""Case Report""; ""Discussion"" ""Conclusion""""Conflict of Interest""; ""Informed Consent""; ""Contributions of the Individual Authors""; ""References""; ""Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Take-Home Message""; ""Compliance with Ethical Guidelines""; ""References""; ""Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation""; ""Abstract""; ""Case Report""; ""Discussion""; ""Summary""; ""Compliance with Ethics Guidelines""; ""References"" ""Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprote...""""Abstract""; ""Introduction""; ""Materials and Methods""; ""Subject""; ""Diet Loading Test""; ""GC-MS Analysis""; ""LC-MS/MS Analysis""; ""Cell Culture""; ""RT-PCR""; ""PCR-Restriction Fragment Length Polymorphism (PCR-RFLP)""; ""Results""; ""Feline MADD""; ""Sequencing of Feline ETFα, ETFbeta, and ETFDH""; ""Presence of a Novel Mutation in the Cat with MADD""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""References"" ""Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome""""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""References""; ""Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach ...""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Patient""; ""Exchange Transfusion (ET) Procedure""; ""Analysis of LPL Gene""; ""Results"" ""ET Procedure and Follow-Up"" |
| Record Nr. | UNINA-9910300343303321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports - Volume 10 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Volume 10 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 |
| Descrizione fisica | 1 online resource (124 p.) |
| Disciplina |
616.3
616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-642-37334-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates; Abstract; Introduction; Materials and Methods; Patients; Birth Prevalence; Mutation Analysis; Results; Discussion; Disclosure Statement; References; Chitotriosidase Deficiency: A Mutation Update in an African Population; Abstract; Introduction; Materials and Methods; Subjects; Methods; Plasma Chitotriosidase Assay; CHIT1 Mutation Detection; Population Screening for CHIT1 Mutations; Evaluation of Missense Mutations; Results; Plasma chito activities and CHIT1 genotyping; Discussion and Conclusion
ReferencesNDUFS8-related Complex I Deficiency Extends Phenotype from ``PEO Plus ́ ́ to Leigh Syndrome; Abstract; Introduction; Case Reports; Patient 1; Patient 2; Patient 3; Results; Discussion; Synopsis; Author Contribution; Funding; Ethical Issues; Competing Interest Statement; References; Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria; Abstract; Introduction; Subjects and Methods; Subjects; Data Collection; Anthropometric Calculations; Statistical Analysis; Results Demographics, BMI, and ADP Body CompositionMean Values and Correlations; Bland-Altman Agreement; Variation in Percent Error; Discussion; Agreement of Tested Equations with ADP Results; Adiposity in PKU and Clinical Relevance; Conclusion; Synopsis; Contributions of Individual Authors; Author Serving as Guarantor; Competing Interest Statement; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease; Abstract; Introduction; Case Report; Discussion; Synopsis; References Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine DeficiencyAbstract; Introduction; References; MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation; Abstract; Introduction; Financial Disclosure; References; Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases; Abstract; Introduction; Method; Participants; Child 1; Child 2; Child 3; Child 4; Measures; Procedure; Descriptive Analyses; Results; Discussion; Clinical Implications and Conclusion; References Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case ReportAbstract; Introduction; Case Report; Biochemical Results; Discussion; Synopsis; References to Electronic Databases; References; Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case; Abstract; Introduction; Report of a Case; Disclosures and Funding; References; Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population; Abstract; Introduction; Objective; Patients and Methods; Study Population; Methods; Statistical Analysis; Results; Discussion Synopsis |
| Record Nr. | UNINA-9910437985703321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports - Volume 11 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Volume 11 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 |
| Descrizione fisica | 1 online resource (172 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-642-37328-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment; Abstract; Introduction; Case Report; Discussion; Contributors; References; Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency; Abstract; Introduction; Case Report; Discussion; Synopsis; Contributions; Conflict of Interest; References
A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine SequencingAbstract; Introduction; Case Report; Discussion; Conclusion; Take-Home Message; Details of the Contributions of Individual Authors; Guarantor for the Article; Conflict of Interests Statement; Ethics Approval; Patient Consent Statement; References; Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures; Abstract; Introduction; Patient Presentation; Discussion; Synopsis; Conflict of Interest Contributor ́s Statement PageReferences; Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia; Introduction; Material and Methods; Case Reports; Discussion; Concise Sentence Take-Home Message; Reference to Electronic Databases; Conflict of Interest; References; Motor and Speech Disorders in Classic Galactosemia; Abstract; Methods; Statistical Analysis; Results; Speech; Strength; Coordination; Days on Milk; Discussion; Speech; Strength; Coordination; Days on Milk; Common Underlying Etiology; Limitations and Recommendations; One Sentence Synopsis Details of the Contributions of Individual AuthorsName of One Author Who Serves as Guarantor; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation; Abstract; Introduction; Case Report; Discussion; Conclusion; Conflicts of Interest; Funding; Take-Home Message; References; Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis; Abstract; Introduction; Patient; Methods; Results; Discussion ConclusionReferences; Early Cardiac Changes in Children with Anderson-Fabry Disease; Abstract; Introduction; Methods; Study Population; Echocardiography; ECG Data and Holter Monitoring; Statistical Analysis; Results; Study Population Characteristics; Progression of Left Ventricular Hypertrophy; 12-Leads ECG Parameters; Holter ECG Parameters; Discussion; Left Ventricular Mass and Left Ventricular Hypertrophy; T Wave Inversion; ECG LV Mass Indexes; 24-h ECG Monitors; Conduction Intervals; N215S Mutation; Limitations; Conclusion; Synopsis; Details of the Contributions of Individual Authors Guarantor Author |
| Record Nr. | UNINA-9910438025403321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports - Volume 12 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Volume 12 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (130 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-319-03461-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
""Contents""; ""Propionic Acidemia and Optic Neuropathy: A Report of Two Cases""; ""Abstract""; ""Introduction""; ""Case Reports""; ""Discussion""; ""Synopsis""; ""References""; ""Chronic Kidney Disease in an Adult with Propionic Acidemia""; ""Abstract""; ""Introduction""; ""Methods and Results""; ""Clinical Summary""; ""Renal Evaluation""; ""Summary and Discussion""; ""Synopsis""; ""References""; ""Transient Massive Trimethylaminuria Associated with Food Protein-Induced Enterocolitis Syndrome""; ""Abstract""; ""Introduction""; ""Case Presentation""; ""Discussion""; ""Synopsis""
""References""""Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation""; ""Abstract""; ""Introduction""; ""Methods""; ""Study Design and Population""; ""Statistical Analysis""; ""Results""; ""Discussion""; ""Study Limitations""; ""Conclusion""; ""Contribution""; ""Disclosures""; ""References""; ""Niemann-Pick Disease Type C: New Aspects in a Long Published Family - Partial Manifestations in Heterozygotes""; ""Abstract""; ""Introduction""; ""Case Report""; ""Genetic Testing""; ""Results and Discussion""; ""Synopsis"" ""Compliance with Ethics Guidelines""""References""; ""Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome""; ""Abstract""; ""Introduction""; ""Clinical Description""; ""Discussion""; ""Take-Home Messages""; ""References""; ""A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Clinical Data""; ""Enzyme Measurements""; ""SNP Array Analysis and Homozygosity Mapping""; ""Mutation Analysis""; ""Blue Native, SDS-PAGE, and In-Gel Activity Assays"" ""Antibodies and ECL Detection""""Lentiviral Complementation of Patient Fibroblasts""; ""Riboflavin Treatment of Patient Cells""; ""Modeling""; ""Results""; ""Enzyme Measurements and Gel Analyses""; ""Gene and Conservation Analyses""; ""Modeling of the p.Ala220Val Mutation""; ""Functional Complementation""; ""Riboflavin Treatment of Fibroblasts""; ""Discussion""; ""Take-Home Message""; ""References""; ""Pulmonary Manifestations in a Patient with Transaldolase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Conclusion""; ""Conflict of Interest"" ""AuthorsÂ? Contributions""""Take-Home Message""; ""References""; ""Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility""; ""Abstract""; ""Introduction""; ""Material and Methods""; ""Results""; ""Discussion""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent""; ""Details of the Contributions of Individual Authors""; ""References""; ""A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Take-Home Message"" ""Compliance with Ethics Guidelines"" |
| Record Nr. | UNINA-9910300078203321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports Volume 16 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports Volume 16 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (113 p.) |
| Disciplina |
599935
610 611.01816 612 616.39 618.92 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-662-44587-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect; Abstract; Introduction; Material and Methods; Patients; Leucine Loading Tests; Urinary Organic Acid Analysis; Leucine Loading Tests in Patients Described in the Literature; Results; Discussion; Disclosures; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta; Abstract; Introduction; Objective
Materials and MethodsStatistical Analysis; Results; Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII; Abstract; Introduction; Materials and Method; Subjects; Chemicals and Materials; Sample Preparation; Apparatus; Method Validation; Statistical Analysis; Results; LC-MS/MS Conditions; Calibration Curves; Precision and Accuracy; Chondroitin 6-Sulfate (C6S) Levels Keratan Sulfate (KS) LevelCorrelation Between KS and C6S Levels; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions to the Project; References; Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis; Abstract; Background; Patients and Methods; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson DiseaseAbstract; Introduction; Methods; Data Collection; Statistical Analysis; Results; Discussion; Sources of Support; Synopsis Sentence; Compliance with Ethics Guidelines; Conflict of Interest; Other Disclosures; Informed Consent; Animal Rights; Individual Author Contributions; Guarantor; References; Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I; Abstract; Introduction; Case Report; Methods; Conventional, Pulse Doppler, and Speckle Tracking Echocardiograms Statistical AnalysisResults; Clinical Findings After LRT; Echocardiographic Findings After LRT; Relation of LV Weight to Urinary Uronic Acid Concentration, Diastolic Function, and Contraction Synchrony; Discussion; Limitations; Funding; Disclosure; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Author Contributions; Competing Interests; Funding; References; Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency; Abstract; Introduction; Case Report; Discussion; Synopsis Details of the Contributions of Individual Authors |
| Record Nr. | UNINA-9910300341103321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 14 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports, Volume 14 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (116 p.) |
| Disciplina |
599935
610 611.01816 612 616.39 618.92 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-662-43748-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) G...; Abstract; Introduction; Materials and Methods; Patients; ARSB Mutation Analysis; Sequence Variations Nomenclature; Analysis of the New Missense Sequence Variation; Results; Genotype-Phenotype Correlation; Family Studies; Discussion; One-Sentence Take-Home Message; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; Details of Funding; Details of Ethics Approval; A Patient Consent Statement; Conflict of Interest
ReferencesDanon Disease Due to a Novel LAMP2 Microduplication; Abstract; Introduction; Methods; Results; Discussion; Acknowledgments; Synopsis; Compliance with Ethics Guidelines; Author Contributions; References; Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis; Abstract; Introduction; Case Reports; Discussion; One-Sentence Take-Home Message; Contribution of Individual Authors; References; Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study; Abstract; Introduction; Materials and Methods; DBS Samples; Enzyme Assay; Results and Discussion ConclusionConflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Abnormalities in Glycogen Metabolism in a Patient with Alpers´ Syndrome Presenting with Hypoglycemia; Abstract; Introduction; Case Report; Discussion; Competing Interest; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions of Individual Authors; References; Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III; Abstract; Introduction; Methods; Results; Basal Metabolic Rate Nutritional StatusDiscussion; Conclusion; Summary; References; Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome; Abstract; Introduction; Conclusions; Compliance with Ethics Guidelines; Informed Consent; References; Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study; Abstract; Introduction; Methods; Statistical Analysis; Results; Discussion; Conclusions; Compliance with Ethics Guidelines; References The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobi...Abstract; Introduction; Materials and Methods; Results; Discussion; Conflict of Interest; Synopsis; Compliance with Ethics Guidelines; Details of Contributions of Individual Authors; References; Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumor; Abstract; Introduction; Case Report; Discussion; Conflict of Interest; Informed Consent; Contributions of Individual Authors; References Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years´ Experience |
| Record Nr. | UNINA-9910300066603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 15 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports, Volume 15 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (133 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology Genètica humana Trastorns del metabolisme Pediatria Fisiologia humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-662-43751-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
""Contents""; ""4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Results""; ""Assay Performance""; ""4OHGlu Levels in Controls and PH3 Families""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Author Contributions""; ""Conflicts of Interest""; ""Ethical Approval""; ""References""; ""Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood""; ""Abstract""; ""Introduction""; ""Patient and Methods""; ""Procedure""; ""Results""; ""Discussion""; ""Synopsis""
""Compliance with Ethics and Guidelines""""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""References""; ""Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment""; ""Abstract""; ""Introduction""; ""Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Details of the Contributions of Individual Authors""; ""References"" ""Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests ...""""Abstract""; ""Introduction""; ""Subjects and Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""Electronic-Database Information""; ""References""; ""Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural Histo...""; ""Abstract"" ""Introduction""""Patients""; ""Patient 1 (Fig.1; II-3)""; ""Patient 2 (Fig.1; II-4)""; ""Biochemical Phenotype and Genotype""; ""Treatments""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Synopsis""; ""Conflict of Interest""; ""Ethics Approval""; ""PatientÂ?s Informed Consent""; ""Animal Rights""; ""AuthorsÂ? Contribution""; ""References""; ""Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations""; ""Abstract""; ""Introduction""; ""Methods""; ""Results""; ""Literature Search"" ""Pharmacotherapy: Recommendation""""Add-on Dietary Treatment: General Recommendations and Rationale""; ""Recommendations (Fig.2)""; ""Rationale""; ""Diet Prescriptions (See Online Supplement for More Details)""; ""Nutritional Aims""; ""Diet Management in (Breastfed) Infants""; ""Assessment of Lysine Content""; ""Lysine-Free Amino Acid Formulas""; ""Monitoring""; ""Clinical Monitoring""; ""Biochemical and Routine Laboratory Monitoring""; ""Nutritional Markers""; ""Neurological Monitoring""; ""Neurodevelopmental Monitoring""; ""Neuro-Radiological Monitoring""; ""Emergency Treatment"" ""Discussion"" |
| Record Nr. | UNINA-9910300209903321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
