Peroxisome Biogenesis Disorders with Prolonged Survival: Phenotypic Expression in a Cohort of 31 Patients

American Journal of Medical Genetics

Volumn 126 A, Issue 4, 2004, Pages 333-338

  Poll The, Bwee Tien ^a,d   Gootjes, Jeannette ^b   Duran, Marinus ^b   De Klerk, Johannis B C ^c   Maillette De Buy Wenniger Prick, Liesbeth J ^d   Admiraal, Ronald J C ^e   Waterham, Hans R ^b   Wanders, Ronald J A ^a,b   Barth, Peter G ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b Department of Clinical Chemistry ^*  (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Infantile Refsum disease; Natural history; Neonatal adrenoleukodystrophy; Peroxisome biogenesis disorders; PEX1 gene; Prolonged survival; Zellweger syndrome

Indexed keywords

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CAUSE OF DEATH; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DISORDERS OF PEROXISOMAL FUNCTIONS; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE; GENE MUTATION; GENOTYPE; GROWTH RATE; HUMAN; KIDNEY FAILURE; LIVER FAILURE; MALE; NUTRITIONAL STATUS; PEROXISOME BIOGENESIS DISORDER; PEX1 GENE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; REFSUM DISEASE; SEIZURE; SURVIVAL RATE; ZELLWEGER SYNDROME;

EID: 2142751027     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20664     Document Type: Article

References (18)

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