JIMD Reports, Volume 34

Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters (Herausgeber)

Buch | Softcover

VI, 115 Seiten

2017 | 1st ed. 2017
Springer Berlin (Verlag)
978-3-662-55585-9 (ISBN)

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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.

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations.- Phenotype and Genotype Expansion.- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.- Delayed Infusion Reactions to Enzyme Replacement Therapies.- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria.- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables.- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance.- COXPD9 an Evolving Multisystem Disease.- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Erscheinungsdatum	04.08.2017
Reihe/Serie	JIMD Reports
Zusatzinfo	VI, 115 p.
Verlagsort	Berlin
Sprache	englisch
Maße	210 x 279 mm
Gewicht	326 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Schlagworte	Biomedical and Life Sciences • endocrinology • Human genetics • inherited metabolic diseases • medical genetics • Medical Research • Mendelian disorder • Metabolic disease • metabolic diseases • Metabolism • Molecular Biology • Molecular Medicine • Paediatric medicine • Pediatrics
ISBN-10	3-662-55585-9 / 3662555859
ISBN-13	978-3-662-55585-9 / 9783662555859
Zustand	Neuware