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Journal of Inherited Metabolic Disease|December 17, 2021
AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblastsMegan L Brophy, John C Stansfield, Youngwook Ahn, et al.Journal of Inherited Metabolic Disease|January 13, 2022
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndromeSelma L van Esveld, Richard J Rodenburg, Fathiya Al-Murshedi, et al.Journal of Inherited Metabolic Disease|January 8, 2022
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approachLoek L Crefcoeur, Gepke Visser, Sacha Ferdinandusse, et al.Journal of Inherited Metabolic Disease|February 27, 2021
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional proteinSarah C Grünert, Matthias Eckenweiler, Dorothea Haas, et al.Journal of Inherited Metabolic Disease|November 19, 2021
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progressionJennifer L Keller, Ani Eloyan, Gerald V Raymond, et al.Journal of Inherited Metabolic Disease|December 29, 2021
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemiaJennifer M I Daenzer, Shauna A Rasmussen, Sneh Patel, et al.Journal of Inherited Metabolic Disease|October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortiumUlrike Mütze, Florian Gleich, Ivo Barić, et al.Journal of Inherited Metabolic Disease|September 22, 2022
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screeningUlrike Mütze, Sven F Garbade, Florian Gleich, et al.Journal of Inherited Metabolic Disease|September 2, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial diseaseAtsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, et al.Journal of Inherited Metabolic Disease|September 2, 2022
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyriasStefanie Lefever, Nele Peersman, Wouter Meersseman, et al.Pageof 429