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E-BookPDF1 - PDF WatermarkE-Book
124 Seiten
Englisch
Springer Berlin Heidelbergerschienen am07.01.20191st ed. 2019
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.mehr
Verfügbare Formate
BuchKartoniert, Paperback
EUR53,49
E-BookPDF1 - PDF WatermarkE-Book
EUR53,49

Produkt

KlappentextJIMD 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.
Details
Weitere ISBN/GTIN9783662586143
ProduktartE-Book
EinbandartE-Book
FormatPDF
Format Hinweis1 - PDF Watermark
FormatE107
Erscheinungsjahr2019
Erscheinungsdatum07.01.2019
Auflage1st ed. 2019
ReiheJIMD Reports
Reihen-Nr.43
Seiten124 Seiten
SpracheEnglisch
IllustrationenVI, 124 p. 35 illus., 20 illus. in color.
Artikel-Nr.4088985
Rubriken
Genre9200

Inhalt/Kritik

Inhaltsverzeichnis
Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study.- Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.-Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.- Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency.- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.- Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice.- Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period.- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.- Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.- A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.- Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain.- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).

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