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JIMD Reports, Volume 18 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 18 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (138 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 | 3-662-44863-7 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome); Abstract; Introduction; Methods; Data Source for Integrated Height Analysis; Definitions of Slowly and Rapidly Progressive Disease; Laboratory Assessments; Statistical Methods; Results; Demographics; MPS VI Growth Curves; Growth of Rapidly and Slowly Progressing MPS VI Patients; MPS VI Growth Charts and Z-Scores for Rapidly and Slowly Progressing MPS VI Patients; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Patient Consent Statement
Contributions of Individual AuthorsReferences; Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Beha...; Abstract; Introduction; Methods; Sample; HCPs; Patients; Procedure; Qualitative Research; Quantitative Research; Results; Sample Characteristics; Psychological Well-Being and Social Support; Relationship with HCPs; Perceptions of Illness and Treatment; Adherence; Factors Associated with Adherence to Diet and Medication; Illness Experience and Perceptions; Treatment Perceptions and Experiences Patient and Family FactorsDiscussion; Recommendations and Conclusions; Disclaimer; Source of Support; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I; Abstract; Introduction; Methods; Results; Discussion; Take Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Financial Disclosure; Other Relationships; Ethics Approval; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors ReferencesProteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease; Abstract; Introduction; Materials and Methods; Chemicals and Antibodies; Cell Cultures; Western Blot Analysis; Immunocytochemistry; Site-Directed Mutagenesis and Expression of Mutated GAA in HEK293T Cells; Quantitative Analyses of Proteins and GAA Activity; Results; Bortezomib Improves the Activity of Several Mutant GAAs in Fibroblasts from Patients with Pompe Disease Bortezomib Improves the Maturation and Intracellular Localization of Mutant GAAs in Patient Fibroblasts Carrying M519V and C64...Bortezomib Increases the Activity of Several Mutant GAAs in HEK293T Cells; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Disclosures; Informed Consent; Animal Rights; Contribution; References; Cognitive Function in Adults Aging with Fabry Disease: A Case-Control Feasibility Study Using Telephone-Based Assessments; Abstract; Introduction; Methods; Participants and Procedures; Participants with Fabry Disease; Control Participants Measures |
| Record Nr. | UNINA-9910300221603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 19 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 19 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (122 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 | 3-662-46190-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia; Abstract; Introduction; Methods; Study Volunteers; GALT Genotyping of DNA from the Child; GALT Genotyping of DNA from Both Parents; Affymetrix 6.0 Microarray Analysis of Genomic Markers in the Trio; Results; Case Report; Dideoxy Sequencing Reveals a Novel GALT Variant in a Child with Classic Galactosemia; Dideoxy Sequencing of Parental GALT Loci Coupled with Comprehensive Genomic SNP Analysis of the Trio Reveals that c.563A>C (p....; Discussion; 1-Sentence Synopsis
Compliance with Ethical GuidelinesConflict of Interest; Informed Consent; Animal Rights; Contributions of Each Author; References; Refsum Disease Presenting with a Late-Onset Leukodystrophy; Abstract; Discussion; One Sentence Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Making the White Matter Matters: Progress in Understanding Canavanś Disease and Therapeutic Interventions Through Eight Decad...; Abstract; Clinical Description Aspartoacylase: Biochemistry and GeneticsCharacterization of the Substrate; Theories Behind the Molecular Etiology of CD; Molecular Water Pump (MWP) and Osmolyte Imbalance Theory; Dysmyelination Theory; Deficiency of AspA-Derived Acetate Compromises Oligodendrocyte Differentiation; Protein Folding and Stabilization Theory; Oxidative Stress Theory; Treatment Strategies; Palliative Measures; Symptomatic Treatment of Disease; Addressing Elevated Substrate in the Context of Deficient Aspartoacylase; Addressing the Deficiency of the Enzyme Aspartoacylase Gene Therapy Using Gene Replacement StrategyPerspectives and Future Directions; One Sentence Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease; Abstract; Introduction; Methods; Participants; Procedure; Measures; Eating Disorders Inventory-3 (EDI-3); Eating Disorders Inventory-Child (EDI-C); Eating Attitudes Test (EAT); Childrenś Eating Attitude Test (ChEAT); Body Esteem Scale (BES) Body Esteem Scale for Children (BES-C)Open-Ended Interview; Data Analysis; Results; Bullying/Teasing; Weight; Height; Negative Body Image; Positive Body Image; Age-Related Acceptance; Discussion; Conclusions; Compliance with Ethics Guidelines; Synopsis; Conflict of Interest; Informed Consent; Author Contributions; References; One Year Experience of Pheburane (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Authors ́Contributions; References Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature |
| Record Nr. | UNINA-9910300178403321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 20 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 20 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (120 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 | 3-662-46700-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings; Abstract; Introduction; Subjects, Methods, and Results; Case 1; Case 2; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Statements; Details of the Contributions of Individual Authors; References; Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease; Abstract; Introduction; Methods; Patient Population; Questionnaire Details; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines
Conflict of InterestReferences; Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature; Abstract; Introduction; Case Reports; Results and Discussion; Clinical and Laboratory Presenting Findings; Biochemical Findings; Mutational Findings; Long-Term Prognosis; Dietary Treatment and Monitoring; Final Considerations; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References Lack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of GlucokinaseAbstract; Introduction; Case History and Glibenclamide Treatment; Methods; Genetic Studies; Enzymatic Analysis of Wild-Type and Mutant GCK; Statistical Analysis; Results; Identification of GCK Mutations; Functional Characterisation of p.Ile19Asn Mutation; Glibenclamide Treatment; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions of Individual Authors; References Morphology and Function of Cerebral Arteries in Adults with Pompe DiseaseAbstract; Introduction; Patients and Methods; Patients; Gd-MRA; Sonography; Statistics; Informed Consent and Ethics; Results; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Individual Contributions; References; Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?; Abstract; Introduction; Patients and Methods; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contribution of the Authors; References Characterization of Variegate Porphyria Mutations Using a Minigene ApproachAbstract; Introduction; Materials and Methods; Patients; Constructs; Minigenes Expression Assays; Statistical Analysis; Bioinformatic Tools; Results; Discussion; Synopsis; Details of Contribution of Individual Authors; Conflict of Interest; Details of Funding; Details of Ethic Approval; References; Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disab...; Abstract; Introduction; Clinical Report; Patient 1; Patient 2; Methods; Array-CGH Molecular Investigations |
| Record Nr. | UNINA-9910300233803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 21 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 21 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (127 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 | 3-662-47172-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB; Abstract; Introduction; Materials and Methods; Materials; Polymer KS; Subjects; Enzymes and Standard; Methods; Sample Preparation; Apparatus; Method Validation; Statistical Analysis; Results; Sulfation Pattern of KS; Calibration Curves; Precision and Accuracy; Analysis of Mono- and Di-sulfated KS; Blood Mono-sulfated KS: Galbeta14GlcNAc(6S); Blood Di-sulfated KS: Galbeta1(6S)4GlcNAc(6S); Correlation Between Mono-sulfated KS and Di-sulfated KS Levels in the Blood; Urine Mono-sulfated KS
Urine Di-sulfated KS Correlation Between Mono-sulfated KS and Di-sulfated KS Levels in the Urine; Discussion; Conclusions; Compliance With Ethical Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions to the Project; Highlights; References; Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada; Abstract; Introduction; Methods; Sample Selection and Survey Implementation; Questionnaire Content and Data Analysis; Results; Scope of Practice; Human Resources and Clinic Services; Research Capacity; Discussion Summary and Interpretation Limitations; Concise 1 Sentence Take-Home Message (Synopsis) of the Article, Outlining What the Reader Learns from the Article; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions; References; Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics; Abstract; Introduction; Methods; Participants; Evaluations; Clinical; Nutrition; Neuropsychological; Statistical Analyses; Results; Sample Demographics; Offspring Outcomes; Dysmorphology; Cognitive Functioning and Emotional Well-Being Maternal Outcomes Maternal Health and Nutrition; Maternal Cognitive and Emotional Outcomes; Correlations Between Offspring Outcome and Maternal Characteristics; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; Author Contributions; References; Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edit...; Abstract; Introduction; Metabolic Disorders; Urea Cycle Disorders; Phenylketonuria (PKU); Galactosemia; Fatty Acid Oxidation Disorders; Instruments; Methods; Results; Discussion One-Sentence Synopsis Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions; References; Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients; Abstract; Introduction; Materials and Methods; Patient Enrollment; GCDH Gene Analysis; In Silico Analysis of Novel Mutations; Results; GCDH Gene Mutations; In Silico Analysis; Genotype and Biochemical Phenotype; Discussion; Clinical Spectrum; Mutation Spectrum; In Silico Analysis of Effect of Mutation on Their Structure; Biochemical, Genotype and Phenotype Correlation Conclusion |
| Record Nr. | UNINA-9910300166303321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 22 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 22 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (121 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 | 3-662-47453-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Innate and Adaptive Immune Response in Fabry Disease; Abstract; Introduction; Proinflammatory Pattern in Naive-Treatment FD Patients; Immune Adaptive Responses Against Agalsidase in Fabry Disease; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism; Abstract; Introduction; Case Report; Discussion; Take-Home Message; Conflict of Interest; Informed Consent; Authors ́Contributions; References
Occurrence of Malignant Tumours in the Acute Hepatic PorphyriasAbstract; Introduction; Material and Methods; Patients and Questionnaire; Incidence and Prevalence of AHP and Relative Risk of HCC; Results; Questionnaire; Malignant Tumours; Incidence of AHP; Prevalence of AHP; Relative Risk of Developing HCC; Discussion; Synopsis; Author Contribution; Compliance with Ethics Guidelines; Conflict of Interest; References; Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide; Abstract; Introduction; Case Report; Results; Discussion; Synopsys Compliance with Ethics GuidelinesConflict of Interest; Informed Consent; Author Contributions; References; Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium; Abstract; Introduction; Methods and Results; The Network ; The Patient Registry; Dissemination; Guideline Development; Evaluation; Discussion; Project Funding Mechanism; Ethical Review Process; Guidelines for Rare Diseases; Looking Forward: Towards a European Reference Network for Inherited Metabolic Diseases; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Informed ConsentDetails of the Contributions of Individual Authors; Animal Rights; References; Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy; Abstract; Introduction; Material and Methods; Molecular Studies; DNA Analysis; cDNA Analysis; Fibroblast Culture; Results; Mutation Analysis; Q39Lfs*14 Mutation Leads to Partial Nonsense-Mediated Decay in Fibroblasts; Discussion; Synopsis; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; Conflict of Interest; Compliance with Ethics Guidelines; References Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsatur...Abstract; Introduction; Methods; Neurotransmitter Analysis in CSF; Molecular Analysis; GC-MS PUFA Analysis; Case Story; PUFA Analysis; Discussion; Conclusion; Take-Home Message; Disclosure; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms; Abstract; Introduction Design and Methods |
| Record Nr. | UNINA-9910300173903321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 23 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 23 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (128 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 | 3-662-47467-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed i...; Abstract; Introduction; Materials and Methods; Cloning and Mutagenesis; Cell Cultures and Growth Media; Results and Discussion; Effect of Carbon Sources upon the Growth of Non-transformed and Wild-Type hGALT-Transformed E. coli DeltagalT; Galactose Sensitivity of Bacteria Expressing Different hGALT Variants; Arginine Rescue of the hGALT Variants; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent
Animal RightsContributions; References; Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Ag...; Abstract; Introduction; Patients and Methods; Treatment Protocol Design and Data Collection; Clinical and Pharmacodynamic Parameters; Data and Statistical Analyses; Results; Safety and Tolerability; Immunogenicity and Other Safety Parameters; Renal Function and Cardiac Structure/Function; Plasma and Urine Biomarkers; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Patient Consent Statement Details of the Contributions of Individual AuthorsReferences; Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5α,6beta-Triol and Further Insight into t...; Abstract; Introduction; Materials and Methods; LC-MS/MS; GC/MS; Mutation Analysis; Filipin Staining; Chitotriosidase Activity; Results; Case Reports; Patient 1; Patient 2; Patient 3; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type SpecificAbstract; Introduction; Materials and Methods; Synopsis of the Laboratory Protocol; Statistical Analyses; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Declaration; References; The Kuvan Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in ...; Abstract; Introduction; Methods; Study Design; Study Population; Study Variables; Assessments; Study Size; Minimizing Bias Statistical AnalysesResults; Patients; BH4 Responsiveness; Safety; Sapropterin Treatment; Blood Phenylalanine Concentrations at Baseline, 6 Months and 12 Months; Natural Protein and Actual Phenylalanine Intake at Baseline, 6 Months and 12 Months; Growth; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Informed Consent; Contributions of Individual Authors; References; Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease; Abstract; Introduction; Materials and Methods; Results; Patient 1; Postmortem Examination Smooth Muscle |
| Record Nr. | UNINA-9910300174003321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 24 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 24 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (126 p.) |
| Disciplina | 616.39 |
| Collana | JIMD Reports |
| Soggetto topico |
Human physiology
Metabolic diseases Pediatrics Human Physiology Metabolic Diseases |
| ISBN | 3-662-48227-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Part I Reports on Alkaptonuria; Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations; Abstract; Introduction; Material and Methods; Subjects; Mutation Analysis of the HGD Gene; Results and Discussion; Conclusion; Compliance with Ethics Guidelines; Informed Consent; Details of the Contributions of Individual Authors; References; Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria; Abstract; Introduction; Methods; Patient Enrollment; Sample Storage; Sample Preparation
Sample Acquisition MethodsStatistical Analysis; Results; HGA in Urine; Tyrosine and NTBC in Plasma; Untargeted Metabolomics Analysis; Patient Symptoms; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Informed Consent; Author Contributions; References; Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alka...; Abstract; Introduction; Materials and Methods; Patients; Study Design and Treatments; Measurements; Calculations and Statistics; Results; Demographics; Nitisinone Pharmacokinetics Relationship Between Nitisinone Exposure and the Effect on HGA and TyrosineDiscussion; Synopsis (Take-Home Message); Compliance with Ethics Guidelines; Conflict of Interest; Contributors; References; Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria; Abstract; Introduction; Methods; Clinical Cohort; Measurements; Robustness Analysis; Creatinine Assessment; Assessment of HGA Interference with Hydroxyperoxidase-Based ELISAs; Results; Robustness Analysis of the Biomarkers; Interference of HGA with Enzyme-Based Assays Diagnostic Markers of ECM Remodelling in AKUDiscussion; Conclusions; Synopsis; Compliance with Ethics Guidelines; Conflict of Interests; Informed Consent; Details of the Contributions of Individual Authors; References; Age-Related Deviation of Gait from Normality in Alkaptonuria; Abstract; Introduction; Participants and Methods; Results; Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of interests; Informed Consent; Contributions of Individual Authors; References; Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice; Abstract IntroductionMaterials and Methods; Mice; Sample Preparation; Chromatographic Conditions; Midlife Nitisinone Treatment; Nitisinone Dose-Response; Histological Analysis; Quantification of Pigmented Chondrons; Statistical Analyses; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Animal Rights; Author Contributions; References; The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Che...; Abstract; Introduction; Background; Melanins; Melanin Types Biosynthetic Pathways of Eumelanin and Pheomelanin |
| Record Nr. | UNINA-9910298266503321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 25 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 25 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (104 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-49668-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III -- Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion -- New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria -- Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis -- The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease -- Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease -- Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib -- Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI -- The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings -- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation -- PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype? -- Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series -- GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings -- LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for Fabry disease. |
| Record Nr. | UNINA-9910253867003321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 26 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 26 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (114 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-49833-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Chapter 1 -- Chapter 2 -- Chapter 3 -- Chapter 4 -- Chapter 5 -- Chapter 6 -- Chapter 7 -- Chapter 8 -- Chapter 9 -- Chapter 10 -- Chapter 11 -- Chapter 12 -- Chapter 13 -- Chapter 14 -- Chapter 15. |
| Record Nr. | UNINA-9910253888803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 27 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 27 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (VI, 112 p. 28 illus., 14 illus. in color.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-50409-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype. |
| Record Nr. | UNINA-9910253870603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
