Morava / Baumgartner / Patterson JIMD Reports, Volume 35
1. Auflage 2017
ISBN: 978-3-662-55833-1
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
E-Book, Englisch, 117 Seiten
Reihe: JIMD Reports
ISBN: 978-3-662-55833-1
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
All contributions rigorously peer-reviewed
Zielgruppe
Research
Autoren/Hrsg.
Weitere Infos & Material
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability .- Hyperammonemia as a Presenting Feature in Two Siblings with Variants .- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital .- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature .- Vitamin B Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient .- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine .- Previously Unreported Biallelic Mutation in Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? .- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience .- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening .- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency .- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation .- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts .- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria .- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis .- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report .- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother .- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.
