Showing results (941-950 of 1,263) with videos related to
Sort By:
Pageof 127
JIMD Reports|July 25, 2015
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type IIIDèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.JIMD Reports|May 27, 2015
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase DeficiencyMatthias Zielonka, Nawal Makhseed, Nenad Blau, et al.JIMD Reports|August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase DeficiencyRonen Spiegel, Devorah Soiferman, Avraham Shaag, et al.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.Pageof 127