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JIMD Reports|November 12, 2021
Variation of the serum <i>N</i>-glycosylation during the pregnancy of a MPI-CDG patientElodie Lebredonchel, Sandrine Duvet, Claire Douillard, et al.JIMD Reports|November 12, 2021
HSD10 disease in a female: A case report and review of literatureJariya Upadia, Nicolette Walano, Grace S Noh, et al.JIMD Reports|November 12, 2021
Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemiaLaurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, et al.JIMD Reports|November 12, 2021
Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent strokeJosé A Paz, Emilia K Embiruçu, Clarissa Bueno, et al.JIMD Reports|November 12, 2021
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distressHege Kampen Pihlstrøm, Mina Susanne Weedon-Fekjær, Birgitte Leisner Bjerkely, et al.JIMD Reports|November 12, 2021
Ketotic hypoglycemia in patients with Down syndromeDanielle Drachmann, Austin Carrigg, David A Weinstein, et al.JIMD Reports|November 12, 2021
Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot studyKathryn L Bohnert, Grace Ditzenberger, Adam J Bittel, et al.JIMD Reports|November 12, 2021
CorrigendumJIMD Reports|January 22, 2014
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' ExperienceS Chadwick, K Fitzgerald, B Weiss, et al.JIMD Reports|May 23, 2014
Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson DiseaseM J Barrett, V L Shanker, W L Severt, et al.Pageof 125