Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Van Hove, Johan L K; Saenz, Margarita S; Thomas, Janet A; Gallagher, Renata C; Lovell, Mark A; Fenton, Laura Z; Shanske, Sarah; Myers, Sommer M; Wanders, Ronald J A; Ruiter, Jos; Turkenburg, Marjolein; Waterham, Hans R

Van Hove, Johan L K; Saenz, Margarita S; Thomas, Janet A; Gallagher, Renata C; Lovell, Mark A; Fenton, Laura Z; Shanske, Sarah; Myers, Sommer M; Wanders, Ronald J A; Ruiter, Jos; Turkenburg, Marjolein; Waterham, Hans R.

Affiliation

Van Hove JL; Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA. Vanhove.Johan@tchden.org

Pediatr Res ; 68(2): 159-64, 2010 Aug.

Article in En | MEDLINE | ID: mdl-20453710

Subject(s)

Brain Diseases, Metabolic; Liver Diseases; Mitochondrial Diseases; Succinate-CoA Ligases/deficiency; Amino Acid Sequence; Base Sequence; Brain/metabolism; Brain/pathology; Brain Diseases, Metabolic/enzymology; Brain Diseases, Metabolic/genetics; Brain Diseases, Metabolic/pathology; DNA Mutational Analysis; Fatal Outcome; Female; Humans; Infant; Infant, Newborn; Leigh Disease/enzymology; Leigh Disease/genetics; Leigh Disease/pathology; Liver Diseases/enzymology; Liver Diseases/genetics; Liver Diseases/pathology; Magnetic Resonance Imaging; Mitochondrial Diseases/enzymology; Mitochondrial Diseases/genetics; Mitochondrial Diseases/pathology; Molecular Sequence Data; Mutation; Succinate-CoA Ligases/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Succinate-CoA Ligases / Brain Diseases, Metabolic / Mitochondrial Diseases / Liver Diseases Limits: Female / Humans / Infant / Newborn Language: En Journal: Pediatr Res Year: 2010 Document type: Article Affiliation country: United States Country of publication: United States

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