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Suzanne D. DeBrosse

Case Western Reserve University

26

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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other disorders associated with lactic acidosis

2021 Molecular Genetics and Metabolism
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Kleefstra syndrome: Impact on parents.

2020 Disability and Health Journal
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Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.

2020 Canadian Journal of Neurological Sciences
- Steven A. Gunzler
- Suzanne D. DeBrosse
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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

2020
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Electroencephalography and Epilepsy Course at UH Cleveland Medical Center, Cleveland, Ohio, United States

2019 Journal of Pediatric Epilepsy
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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

2019
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The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

2019 Molecular Genetics & Genomic Medicine
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Mutations in SCN3A cause early infantile epileptic encephalopathy

2018 Annals of Neurology
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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

2017 Molecular Genetics and Metabolism
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Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

2017 Molecular Genetics and Metabolism
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Citations (21)