Hugendubel.info - Die B2B Online-Buchhandlung 

Merkliste
Die Merkliste ist leer.
Bitte warten - die Druckansicht der Seite wird vorbereitet.
Der Druckdialog öffnet sich, sobald die Seite vollständig geladen wurde.
Sollte die Druckvorschau unvollständig sein, bitte schliessen und "Erneut drucken" wählen.
Book on DemandKartoniert, Paperback
105 Seiten
Englisch
Springererschienen am11.04.20181st ed. 2018
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders.mehr
Verfügbare Formate
E-BookPDF1 - PDF WatermarkE-Book
EUR96,29
Book on DemandKartoniert, Paperback
EUR106,99

Produkt

KlappentextJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders.
Zusammenfassung
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
Details
ISBN/GTIN978-3-662-56609-1
ProduktartBook on Demand
EinbandartKartoniert, Paperback
Verlag
Erscheinungsjahr2018
Erscheinungsdatum11.04.2018
Auflage1st ed. 2018
ReiheJIMD Reports
Seiten105 Seiten
SpracheEnglisch
Gewicht306 g
IllustrationenVI, 105 p. 20 illus., 7 illus. in color.
Artikel-Nr.44476631
Rubriken
GenreMedizin

Inhalt/Kritik

Inhaltsverzeichnis
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.mehr

Autor