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JIMD Reports|October 13, 2018
The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital HyperinsulinismColin P Hawkes, Juan J Lado, Stephanie Givler, et al.JIMD Reports|March 14, 2022
The development of end stage renal disease in two patients with PMM2-CDGHenna Tiwary, Leah E Hecht, William J Brucker, et al.JIMD Reports|June 27, 2019
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected motherPatricia Dubot, Léonardo Astudillo, Guy Touati, et al.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 McKiernanJIMD 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.Pageof 127