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JIMD Reports|August 13, 2016
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase DeficiencyKarolina M Stepien, Anthony S Wierzbicki, Bwee T Poll-The, et al.JIMD Reports|August 13, 2016
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult PatientsM M Welsink-Karssies, J A W Polderman, E J Nieveen van Dijkum, et al.JIMD Reports|January 14, 2022
Two siblings with galactose mutarotase deficiency: Clinical differencesHavva Yazici, Ebru Canda, Yasemin Atik Altınok, et al.JIMD Reports|January 14, 2022
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measuresAnnieke Venema, Fabian Peeks, Marlies de Bruijn-van der Veen, et al.JIMD Reports|January 14, 2022
Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuriaBirgitta Olsson, Lakshminarayan Ranganath, Jean-Baptiste Arnoux, et al.JIMD Reports|September 14, 2022
Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosisAlfredo Uribe-Ardila, Johana Ramirez-Borda, Adis AyalaJIMD Reports|September 14, 2022
Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathySema Kalkan Uçar, Havva Yazıcı, Ebru Canda, et al.JIMD Reports|September 11, 2015
Causes of Death in Adults with Mitochondrial DiseaseMarlieke Barends, Lotte Verschuren, Eva Morava, et al.JIMD Reports|September 26, 2015
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA DepletionGhadi Antoun, Skye McBride, Jason R Vanstone, et al.JIMD Reports|January 18, 2015
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from IndiaSunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, et al.Pageof 128