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JIMD Reports|February 20, 2020
High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiencyTomoyasu Higashimoto, Alexander Y Kim, Jessica T Ogawa, et al.JIMD Reports|February 20, 2020
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplexIman S Abumansour, Nataliya Yuskiv, Eduard Paschke, et al.JIMD Reports|February 20, 2020
High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia RegistryMaria L Cotrina, Sindy Ferreiras, Patricia SchneiderJIMD Reports|January 21, 2021
Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcomeAshish Marwaha, Judy Ibrahim, Taylor Rice, et al.JIMD Reports|January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathySarah E Donoghue, Susan M White, Tiong Yang Tan, et al.JIMD Reports|January 21, 2021
Long-term follow-up with filter paper samples in patients with propionic acidemiaSinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernández-Felix, et al.JIMD Reports|January 21, 2021
Genetic characterization of the Albanian Gaucher disease patient populationPaskal Cullufi, Mirela Tabaku, Virtut Velmishi, et al.JIMD Reports|January 21, 2021
Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle diseaseSamuela A Fernandes, Aleena A Khan, Tracy Boggs, et al.JIMD Reports|December 9, 2016
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn ScreeningCallum Wilson, Detlef Knoll, Mark de Hora, et al.JIMD Reports|December 9, 2016
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyElsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, et al.Pageof 128