JIMD Reports, Volume 38 (eBook, PDF)

Redaktion: Morava, Eva; Peters, Verena; Zschocke, Johannes; Rahman, Shamima; Patterson, Marc; Baumgartner, Matthias

• Format: PDF

Produktbeschreibung

Unique collection of case and research reports on rare metabolic disorders

Contains unusual or previously unrecorded features relevant to metabolic disorders

All contributions rigorously peer-reviewed

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Produktdetails

• Verlag: Springer Berlin Heidelberg
• Seitenzahl: 105
• Erscheinungstermin: 28. März 2018
• Englisch
• ISBN-13: 9783662566107
• Artikelnr.: 52939385

Inhaltsangabe

First Successful Conception Induced by a Male Cystinosis Patient.- Glutaric Acidemia Type 1: A Case of Infantile Stroke.- Treatment of Depression in Adults with Fabry Disease.- Mutations in GMPPB Presenting with Pseudometabolic Myopathy.- Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.- Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.- Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.- GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.- Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice.- Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.- Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1.- A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment.- An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.- Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.