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Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

✍ Scribed by Poll-The, Bwee Tien ;Gootjes, Jeannette ;Duran, Marinus ;de Klerk, Johannis B.C. ;Maillette de Buy Wenniger-Prick, Liesbeth J. ;Admiraal, Ronald J.C. ;Waterham, Hans R. ;Wanders, Ronald J.A. ;Barth, Peter G.

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 196 KB
Volume: 126A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20664

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## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal