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JIMD Reports|November 12, 2021
Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiencyMarcello Bellusci, Maria Teresa García-Silva, Ana Martínez de Aragón, et al.JIMD Reports|November 12, 2021
Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case reportKazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, et al.JIMD Reports|January 14, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal developmentIvan Shelihan, Elsa Rossignol, Jean-Claude Décarie, et al.JIMD Reports|January 14, 2022
Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosisMaria Helena Vaisbich, Juliana Caires Ferreira, Heather Price, et al.JIMD Reports|September 14, 2022
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndromeMahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, et al.JIMD Reports|September 14, 2022
Glycogen storage disease type 1a in the Ohio AmishEthan M Scott, Olivia K Wenger, Elizabeth Robinson, et al.JIMD Reports|September 14, 2022
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case reportArthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, et al.JIMD Reports|September 14, 2022
Dental manifestations in adult hypophosphatasia and their correlation with biomarkersPriya Sinha, Rachel Gabor, Rachael Haupt-Harrington, et al.JIMD Reports|September 14, 2022
Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial diseaseKathleen D Valverde, Elizabeth M McCormick, Marni J FalkJIMD Reports|April 18, 2022
Glycogen storage disease type IIIa in pregnant women: A guide to managementDemi Beneru, Michel C Tchan, Kate Billmore, et al.Pageof 127