JIMD Reports - Case and Research Reports, 2012/4 [[electronic resource] /] / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters

• Record Nr.: UNINA9910438005803321
• Pubbl/distr/stampa: Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2013
• ISBN: 1-283-63178-4; 9786613944238; 3-642-32442-8
• Edizione: [1st ed. 2013.]
• Descrizione fisica: 1 online resource (131 p.)
• Collana: JIMD Reports, , 2192-8304 ; ; 7
• Disciplina: 616.3/9042; 616.39042
• Soggetti: Human genetics; Metabolic diseases; Pediatrics; Human physiology; Human Genetics; Metabolic Diseases; Human Physiology
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references.
• 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
• Sommario/riassunto: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.