JIMD Reports, Volume 43

Chapter 92 Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study

Chapter 93 Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

Chapter 94 Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment

Chapter 95 Serial Magnetic Resonance Imaging and 1 H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report

Chapter 96 Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice

Chapter 97 Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency

Chapter 99 Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period

Chapter 100 Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

Chapter 101 Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I

Chapter 107 A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

Chapter 108 Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion

Chapter 110 Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

Chapter 111 Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

Chapter 112 RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

Chapter 113 Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)