JIMD reports. Volume 35 /

• Other Authors: Morava, Eva (Editor), Baumgartner, Matthias R. (Editor), Patterson, Marc (Editor), Rahman, Shamima (Editor), Zschocke, Johannes (Editor), Peters, Verena (Editor)
• Format: Electronic eBook
• Language: English
• Published: Berlin, Germany : Springer, 2017.
• Series: JIMD reports ; v. 35.
• Subjects: Metabolism, Inborn errors of.; Metabolism > Disorders.; elektronické knihy; electronic books
• ISBN: 9783662558331; 9783662558324
• Physical Description: 1 online resource

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.

Table of Contents:

• Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability; Abstract; Introduction; Materials and Methods; Molecular Genetic Testing; Biochemical Testing; Imaging; Cognitive testing; EEG; Results; Discussion; Synopsis; Conflicts of Interest; Author Contributions; Compliance with Ethics Guidelines; References; Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants; Abstract; Introduction; Case Reports; Sibling 1; Sibling 2; Materials and Methods; Patient Enrollment; Urine Organic Acid Analysis; Muscle mtDNA Assay.
• DNA Preparation, Exome Sequencing, and Data Analysis; Results; Whole Exome Sequencing; Mitochondrial DNA Depletion Assay; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines; References; Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Childrenś Hospital; Abstract; Introduction; Methods; Results; Discussion; Conclusion; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report ...
• Abstract; Introduction; Case Presentation; Past Medical History; Discussion; Conclusion; Contributions of Individual Authors; Guarantor for the Article; Compliance with Ethics Guidelines; Competing Interests; Funding; Ethics; References; Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Details of the Contributions of Individual Authors; References; Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine; Abstract; Introduction; Case Reports.
• Patient 1; Patient 2; Patient 3; Discussion; Take-Home Message; Authors Contribution; Competing Interest Statement; Ethics Statement; References; Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Featu ... ; Abstract; Introduction; Methods; Measurements of the Respiratory Chain Enzymes in Muscle; Immunoblotting; Genetic Investigations; Case Report and Results; Clinical and Neurological Presentation, Cerebral MRI Findings; Clinical Chemical, Metabolic, and Endocrine Findings.
• Measurements of the Respiratory Chain Enzymes in Muscle; Genetic Investigations; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References; Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflict of Interests; Consent; Ethics; Authors Contributions; Funding; References; The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening; Abstract; Introduction.