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Neuromuscular Disorders : NMD|January 26, 2015
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe diseaseLaura E Case, Carl Bjartmar, Claire Morgan, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 5, 2012
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathyBi-Xia Ke, Salvatore Pepe, David R Grubb, et al.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Blood|January 26, 2022
Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1Daniela Castiblanco, Jesse A Rudd-Schmidt, Tahereh Noori, et al.
The Journal of Biological Chemistry|April 27, 2012
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneDillon W Leong, Jasper C Komen, Chelsee A Hewitt, et al.
The Journal of Pediatrics|June 16, 2022
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIBIlyas Okur, Fatih Ezgu, Roberto Giugliani, et al.
Internal Medicine Journal|March 13, 2026
An Australian standard of care for Niemann-Pick disease type CMichel Tchan, Nicholas Smith, Heidi Peters, et al.
Metabolism: Clinical and Experimental|January 30, 2026
Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trialMaria Giżewska, Anita Inwood, Renáta Tyčová, et al.
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