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JIMD Reports|March 17, 2021
Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type ITroy C Lund, Terence M Doherty, Julie B Eisengart, et al.JIMD Reports|March 17, 2021
Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease)Lourens J P Nonkes, Willemijn F E Kuper, Karin Berrens-Hogenbirk, et al.JIMD Reports|November 12, 2021
Variation of the serum N-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
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