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JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
JIMD Reports|June 27, 2019
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiencyKaren L Madsen, Nicolai Preisler, Astrid E Buch, et al.
JIMD Reports|June 27, 2019
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survivalRodrigo Del Brío Castillo, James E Squires, Patrick J McKiernan
JIMD Reports|June 27, 2019
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in plateletsManisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, et al.
JIMD Reports|June 27, 2019
A fatal case of COQ7-associated primary coenzyme Q10 deficiencyAnna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, et al.
JIMD Reports|June 24, 2017
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and HypoceruloplasminemiaPier Luigi Calvo, Marco Spada, Ivana Rabbone, et al.
JIMD Reports|June 24, 2017
Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1Nathalie Guffon, Anders Bröijersén, Ingrid Palmgren, et al.
JIMD Reports|March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical PhenotypeJ Reunert, A S Lotz-Havla, G Polo, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
JIMD Reports|July 21, 2020
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiencyMaina P Kava, Leah Bryant, Peter Rowe, et al.
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