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JIMD Reports|September 10, 2019
Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected babyKenji Yamada, Keiichi Matsubara, Yuko Matsubara, et al.JIMD Reports|September 10, 2019
Education and training in adult metabolic medicine: Results of an international surveyAnnalisa Sechi, Elisa Fabbro, Mirjam Langeveld, et al.JIMD Reports|October 24, 2018
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1André B P van Kuilenburg, Judith Meijer, Rutger Meinsma, et al.JIMD Reports|November 9, 2018
Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase DeficiencyMolly McPheron, Melissa LahJIMD Reports|November 12, 2021
Method comparison of beta-hydroxybutyrate point-of-care testing to serum in healthy childrenKomalben Parmar, Maua Mosha, David A Weinstein, et al.JIMD Reports|August 9, 2019
A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemiaTomoko Lee, Yuichi Takami, Kenji Yamada, et al.JIMD Reports|August 9, 2019
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiencyJirair K Bedoyan, Leah Hecht, Shulin Zhang, et al.JIMD Reports|August 9, 2019
Prevalence of Fabry disease in male dialysis patients: Argentinean screening studyJoaquín Frabasil, Consuelo Durand, Silvia Sokn, et al.JIMD Reports|August 9, 2019
Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC-QTOF-MSAndrew S Davison, Brendan P Norman, Gordon A Ross, et al.JIMD Reports|February 12, 2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-AcetylaspartateMarni J Falk, Dong Li, Xiaowu Gai, et al.Pageof 127