Peroxisomal disorders: Clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families

American Journal of Medical Genetics

Volumn 85, Issue 5, 1999, Pages 502-510

  Steinberg, Steven J ^a   Elçioglu, Nursel ^a   Slade, Christina M ^a   Sankaralingam, Arun ^b   Dennis, Nicholas ^c   Mohammed, Shehla N ^a   Fensom, Anthony H ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

PEX genes; Rhizomelic chondrodysplasia punctata; Zellweger syndrome

Indexed keywords

VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; DISORDERS OF PEROXISOMAL FUNCTIONS; FATALITY; FATTY ACID BLOOD LEVEL; FEMALE; HUMAN; INFANT; MALE; NEWBORN; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFECT; REFSUM DISEASE; ZELLWEGER SYNDROME;

CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MALE; PEROXISOMAL DISORDERS; PHENOTYPE; PHYTANIC ACID; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL; ZELLWEGER SYNDROME;

EID: 0345517153     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990827)85:5<502::AID-AJMG14>3.0.CO;2-T     Document Type: Article

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