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Johan L. K. Van Hove
Child Development
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Kendra J. Bjoraker
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Mar 1, 2016
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1 min read
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Animals
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
Michael A. Swanson
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Oct 1, 2015
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1 min read
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Alpers Syndrome
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Curtis R. Coughlin
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Aug 1, 2015
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1 min read
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Acyl Coenzyme A
Clinical and biochemical characterization of four patients with mutations in ECHS1
Sacha Ferdinandusse
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Jun 1, 2015
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1 min read
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3-Hydroxyacyl CoA Dehydrogenases
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
Kathryn C. Chatfield
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Mar 1, 2015
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1 min read
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Alpha Aminoadipic Semialdehyde
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
Curtis R. Coughlin
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Jan 1, 2015
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1 min read
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Atrophy
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
Peter R. Baker
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Feb 1, 2014
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1 min read
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Age of Onset
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
Hung-Chun Yu
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Sep 1, 2013
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1 min read
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