Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations

Journal of Pediatrics

Volumn 138, Issue 3, 2001, Pages 396-399

  Ibdah, Jamal A ^a,b,c   Zhao, Yiwen ^a,b,c   Viola, Jennifer ^a,b,c   Gibson, Beverly ^a,b,c   Bennett, Michael J ^a,b,c   Strauss, Arnold W ^a,b,c  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; LONG CHAIN FATTY ACID;

ARTICLE; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; ENZYME ASSAY; ENZYME DEFICIENCY; FAMILY STUDY; FATTY ACID OXIDATION; FETUS; GENE MUTATION; GENOTYPE; HUMAN; MITOCHONDRION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0035089930     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2001.111503     Document Type: Article

References (23)

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4. Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α- and β-subunits
5. Common missense mutation G1528C in longchain 3-hydroxyacyl-CoA dehydrogenase deficiency
6. Sudden infant death and longchain 3-hydroxyacyl-CoA dehydrogenase
7. Clinical and biochemical presentation of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
8. Mitochondrial trifunctional protein deficiency
9. Two α-subunit donor splice site mutations cause human trifunctional protein deficiency
10. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
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13. Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetalmaternal interaction cause maternal liver disease and other pregnancy complications
14. Long chain 3-hydroxyacyl-CoA deficiency: Variable expressivity of maternal illness and unusual presentation with infantile hypocalcemia and cholestasis
15. Human trifunctional protein deficiency
16. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
17. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
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20. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
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22. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-CoA, dehydrogenase deficiency