JIMD Reports, Volume 44 (eBook)

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy.- Psychosocial Functioning in Parents of MPS III Patients.- The Second Case of Saposin A Deficiency and Altered Autophagy.- An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.- Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients.- Cobalamin D Deficiency Identified Through Newborn Screening.- Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.- Enzyme Replacement Therapy During Pregnancy in Fabry Patients.- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.- Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort.- Reversible Cerebral White Matter Abnormalities in Homocystinuria.