JIMD Reports, Volume 43

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).