publication venue for
- A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.. 140. 2023
- Mitochondrial disease manifestations in relation to transcriptome location and function.. 135. 2021
- Arginase overexpression in neurons and its effect on traumatic brain injury.. 125. 2018
- Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.. 110. 2013
- Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.. 110. 2013
- Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.. 89. 2006
- Vesicle-associated membrane protein 4, a positional candidate gene on 1q24-q25, is not associated with type 2 diabetes in the Old Order Amish.. 85. 2005
- The silent T1317C mutation of methylenetetrahydrofolate reductase should not interfere with MboII restriction isotyping of the reported A1298C mutation.. 68. 1999
- A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.. 64. 1998
- Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.. 124. 2019
- Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.. 121. 2017
- Large contiguous gene deletions in Sjögren-Larsson syndrome.. 104. 2011
- Natural course of glutamine synthetase deficiency in a 3 year old patient.. 103. 2011
- Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.. 101. 2010
- Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.. 94. 2008
- Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. 2010