Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Matern, D; Strauss, A W; Hillman, S L; Mayatepek, E; Millington, D S; Trefz, F K

Matern, D; Strauss, A W; Hillman, S L; Mayatepek, E; Millington, D S; Trefz, F K.

Affiliation

Matern D; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

Pediatr Res ; 46(1): 45-9, 1999 Jul.

Article in En | MEDLINE | ID: mdl-10400133

Subject(s)

3-Hydroxyacyl CoA Dehydrogenases/deficiency; DNA/blood; Multienzyme Complexes/deficiency; Multienzyme Complexes/genetics; Mutation, Missense; Sequence Deletion; 3-Hydroxyacyl CoA Dehydrogenases/genetics; Base Sequence; Cardiomyopathies/genetics; Carnitine/analogs & derivatives; Carnitine/blood; DNA/genetics; Female; Genetic Testing; Heterozygote; Humans; Infant, Newborn; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; Male; Mass Spectrometry/methods; Mitochondrial Trifunctional Protein; Neonatal Screening; Nuclear Family; Reye Syndrome/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: DNA / Sequence Deletion / Mutation, Missense / 3-Hydroxyacyl CoA Dehydrogenases / Multienzyme Complexes Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Pediatr Res Year: 1999 Document type: Article Affiliation country: United States Country of publication: United States

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