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.
Table des matières
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-Co A 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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