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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.
Sommario
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.
Info autore
Riassunto
Unique collection of case and research reports on rare metabolic disordersContains unusual or previously unrecorded features relevant to metabolic disorders
All contributions rigorously peer-reviewed
