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Transplantation|February 26, 2019
Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome PatientsFrançoise Smets, Dries Dobbelaere, Patrick McKiernan, et al.Frontiers in Genetics|March 31, 2023
Hereditary orotic aciduria identified by newborn screeningOrna Staretz-Chacham, Nadirah S Damseh, Suha Daas, et al.Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.EMBO Molecular Medicine|January 11, 2017
Sequence variation in <i>PPP1R13L</i> results in a novel form of cardio-cutaneous syndromeTzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, et al.Journal of Inherited Metabolic Disease|March 7, 2014
Clinical presentation and outcome in a series of 88 patients with the cblC defectSabine Fischer, Martina Huemer, Matthias Baumgartner, et al.Nature Genetics|March 2, 2010
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationAndrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, et al.Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.Proceedings of the National Academy of Sciences of the United States of America|December 28, 2018
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorderChih-Wei Chen, Hong-Ling Wang, Ching-Wen Huang, et al.Molecular Genetics and Metabolism|March 22, 2026
Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicityAndré B P van Kuilenburg, Hanna Mandel, Tameemi Abdalla Moady, et al.Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, et al.Pageof 13