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JIMD reports . Volume 11 / / Johannes Zschocke ... [et al.], editors
| JIMD reports . Volume 11 / / Johannes Zschocke ... [et al.], editors |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, : Springer, 2013 |
| Descrizione fisica | 1 online resource (172 p.) |
| Disciplina | 616.39042 |
| Altri autori (Persone) | ZschockeJohannes |
| Collana | JIMD reports |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN | 3-642-37328-3 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | ger |
| 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, : Springer, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD reports : case and research reports, 2012/5 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor
| JIMD reports : case and research reports, 2012/5 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, : Springer, 2013 |
| Descrizione fisica | 1 online resource (153 p.) |
| Disciplina | 616.3/9042 |
| Altri autori (Persone) |
ZschockeJohannes
GibsonK. Michael BrownGarry MoravaEva PetersVerena |
| Collana | JIMD reports |
| Soggetto topico | Metabolism, Inborn errors of |
| 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, : Springer, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD reports
| JIMD reports |
| Pubbl/distr/stampa | Berlin, : SSIEM and Springer-Verlag, ©2011 |
| Disciplina | 616.39042 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism, Inborn errors of - Research Metabolism, Inborn Errors |
| Soggetto genere / forma |
Periodical
Fulltext Internet Resources. Case studies. Periodicals. |
| ISSN | 2192-8312 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti |
Journal of inherited metabolic disorders reports
Case and research reports |
| Record Nr. | UNINA-9910130745203321 |
| Berlin, : SSIEM and Springer-Verlag, ©2011 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD reports
| JIMD reports |
| Pubbl/distr/stampa | Berlin, : SSIEM and Springer-Verlag, ©2011 |
| Disciplina | 616.39042 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism, Inborn errors of - Research Metabolism, Inborn Errors |
| Soggetto genere / forma |
Periodical
Fulltext Internet Resources. Case studies. Periodicals. |
| ISSN | 2192-8312 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti |
Journal of inherited metabolic disorders reports
Case and research reports |
| Record Nr. | UNISA-996321019503316 |
| Berlin, : SSIEM and Springer-Verlag, ©2011 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
| ||
JIMD reports-- case and research reports, 2012/4 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor
| JIMD reports-- case and research reports, 2012/4 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Heidelberg, : Springer, : SSIEM, 2013 |
| Descrizione fisica | 1 online resource (131 p.) |
| Disciplina |
616.3/9042
616.39042 |
| Altri autori (Persone) |
BrownGarry
ZschockeJohannes GibsonK. Michael MoravaEva PetersVerena |
| Collana | JIMD reports |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism - Disorders Medical genetics |
| 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 |
| Heidelberg, : Springer, : SSIEM, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Journal of inborn errors of metabolism and screening
| Journal of inborn errors of metabolism and screening |
| Pubbl/distr/stampa | Thousand Oaks, CA : , : Sage Publications, , [2013]- |
| Descrizione fisica | 1 online resource |
| Disciplina | 616.39 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism, Inborn Errors |
| Soggetto genere / forma |
Periodical
Periodicals. |
| Soggetto non controllato | Metabolic & Nutritional Diseases |
| ISSN | 2326-4594 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | JIEMS |
| Record Nr. | UNISA-996250823003316 |
| Thousand Oaks, CA : , : Sage Publications, , [2013]- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
| ||
Journal of inborn errors of metabolism and screening
| Journal of inborn errors of metabolism and screening |
| Pubbl/distr/stampa | Thousand Oaks, CA : , : Sage Publications, , [2013]- |
| Descrizione fisica | 1 online resource |
| Disciplina | 616.39 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism, Inborn Errors |
| Soggetto genere / forma |
Periodical
Periodicals. |
| Soggetto non controllato | Metabolic & Nutritional Diseases |
| ISSN | 2326-4594 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | JIEMS |
| Record Nr. | UNINA-9910139062903321 |
| Thousand Oaks, CA : , : Sage Publications, , [2013]- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Journal of inherited metabolic disease
| Journal of inherited metabolic disease |
| Pubbl/distr/stampa | [Dordrecht], : Kluwer Academic Publishers |
| Descrizione fisica | 1 online resource |
| Disciplina | 616.39042 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism Genetic disorders Metabolism - Disorders Science - Societies, etc Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases Societies, Scientific Maladies métaboliques congénitales Métabolisme Maladies génétiques Troubles du métabolisme Sciences - Associations metabolism (biological concept) Health |
| Soggetto genere / forma |
Periodical
Periodicals. Périodiques. |
| Soggetto non controllato | Health |
| ISSN | 1573-2665 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910145060703321 |
| [Dordrecht], : Kluwer Academic Publishers | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Journal of inherited metabolic disease
| Journal of inherited metabolic disease |
| Pubbl/distr/stampa | [Dordrecht], : Kluwer Academic Publishers |
| Descrizione fisica | 1 online resource |
| Disciplina | 616.39042 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism Genetic disorders Metabolism - Disorders Science - Societies, etc Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases Societies, Scientific Maladies métaboliques congénitales Métabolisme Maladies génétiques Troubles du métabolisme Sciences - Associations metabolism (biological concept) Health |
| Soggetto genere / forma |
Periodical
Periodicals. Périodiques. |
| Soggetto non controllato | Health |
| ISSN | 1573-2665 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNISA-996202296503316 |
| [Dordrecht], : Kluwer Academic Publishers | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
| ||
Precision nutrition and metabolic syndrome management / / edited by J. Alfredo Martínez, M. Angeles Zulet
| Precision nutrition and metabolic syndrome management / / edited by J. Alfredo Martínez, M. Angeles Zulet |
| Pubbl/distr/stampa | Basel, Switzerland : , : MDPI - Multidisciplinary Digital Publishing Institute, , 2018 |
| Descrizione fisica | 1 online resource (vii, 211 pages) |
| Disciplina | 616.39 |
| Soggetto topico |
Metabolism - Disorders
Metabolism, Inborn errors of |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910597907703321 |
| Basel, Switzerland : , : MDPI - Multidisciplinary Digital Publishing Institute, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
