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JIMD Reports, Volume 36 de Eva Morava

JIMD Reports, Volume 36: JIMD Reports, cartea 36

Editat de Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
en Limba Engleză Paperback – 20 noi 2017
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.
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Specificații

ISBN-13: 9783662561379
ISBN-10: 3662561379
Pagini: 120
Ilustrații: VI, 120 p. 20 illus., 11 illus. in color.
Dimensiuni: 210 x 279 mm
Greutate: 0.3 kg
Ediția:1st ed. 2017
Editura: Springer Berlin, Heidelberg
Colecția Springer
Seria JIMD Reports

Locul publicării:Berlin, Heidelberg, Germany

Cuprins

False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.- Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.- Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.- Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.- Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?.- The Spectrum of Niemann-Pick Type C Disease in Greece.- What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?.- A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.- Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.- Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.- Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1.- Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.- An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom.- Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology.- Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.

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Textul de pe ultima copertă

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.

Caracteristici

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 Includes supplementary material: sn.pub/extras