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Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entity

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  1. Article

    I-Cell Disease: Biochemical Studies

    Extract: Six patients with I-cell disease (ICD) are studied. Multiple acid hydrolase deficiencies are demonstrated in cultured skin fibroblasts. These include βs-galactosidase (2% of normal), β-glucosaminidase (8...

    Jules G Leroy, Mae Wan Ho, Monica C Macbrinn, Klaus Zielke… in Pediatric Research (1972)

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  2. Article

    Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

    In the last decades, a large variety of oxidative phosphorylation (OXPHOS) defects have been reported, expressed as an increasing variety of clinical phenotypes. With the expanding number of genes and proteins...

    Boel de Paepe, Joél Smet, Jules G Leroy, Sara Seneca, Edith George… in Pediatric Research (2006)

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  3. Article

    Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

    The congenital disorders of N-glycosylation (CDG), a steadily increasing group of multi-systemic disorders, have severe clinical implications in infancy and early childhood. The various inborn errors responsib...

    Jules G Leroy in Pediatric Research (2006)

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