D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes

Journal of Pediatrics

Volumn 139, Issue 6, 2001, Pages 865-867

  Nakano, Kazutoshi ^a,b,c,d,e   Zhang, Zhongyi ^a,b,c,d,e   Shimozawa, Nobuyuki ^a,b,c,d,e   Kondo, Naomi ^a,b,c,d,e   Ishii, Nozomi ^a,b,c,d,e   Funatsuka, Makoto ^a,b,c,d,e   Shirakawa, Seigo ^a,b,c,d,e   Itoh, Masayuki ^a,b,c,d,e   Takashima, Sachio ^a,b,c,d,e   Une, Mizuho ^a,b,c,d,e   Kana Aki, Ri Ring ^a,b,c,d,e   Mukai, Kiyoshi ^a,b,c,d,e   Osawa, Makiko ^a,b,c,d,e   Suzuki, Yasuyuki ^a,b,c,d,e  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b GIFU UNIVERSITY   (Japan)

^c Aiiku Hospital   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

^e TOKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A OXIDASE; D 3 HYDROXYACYL COA DEHYDRATASE; D 3 HYDROXYACYL COA DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; ASCITES; CASE REPORT; ENZYME DEFICIENCY; FACE DYSMORPHIA; FATTY ACID OXIDATION; HAND MALFORMATION; HUMAN; HYDRAMNIOS; INFANT; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; TOE MALFORMATION;

EID: 0035659795     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2001.119170     Document Type: Article

References (12)

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3. D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: A newly identified peroxisomal disorder
4. Neuronal migration abnormality in peroxisomal bifunctional enzyme defect
5. Incidence of peroxisomal disorders in Japan
6. Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency
7. Sensitive analysis of serum 3α, 7α, 12α, 24-tetrahydroxy-5β,-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency
8. Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome
9. Structure of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein
10. Effect of sodium 2-[5-(4-chlorophenyl) pentyl]oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases
11. Hydrops fetalis: Lysosomal storage disorders in extremis
12. Structure of the gene for the human 17beta-hydroxysteroid dehydrogenase type IV