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

Steinberg S., Elcioglu N., Slade C., Sankaralingam A., Dennis N., Mohammed S., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.85, sa.5, ss.502-510, 1999 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 85 Sayı: 5
  • Basım Tarihi: 1999
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.502-510
  • Anahtar Kelimeler: Zellweger syndrome, PEX genes, rhizomelic chondrodysplasia punctata, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, BIFUNCTIONAL PROTEIN-DEFICIENCY, BIOGENESIS DISORDERS, COMPLEMENTATION ANALYSIS, PTS2 RECEPTOR, NEONATAL ADRENOLEUKODYSTROPHY, ZELLWEGER SYNDROME, ENZYME DEFICIENCY, HUMAN PEX7, GENE
  • Marmara Üniversitesi Adresli: Hayır

Özet

We describe the main clinical and biochemical findings in 15 patients with peroxisomal disorders, together with the results of 11 prenatal investigations for Zellweger syndrome, The initial laboratory diagnosis depended in most cases on demonstration of elevated very long chain fatty acids in plasma, but follow-up studies using cultured fibroblasts were essential for complete classification. The patient group comprises nine cases of Zellweger syndrome, one of neonatal adrenoleucodystrophy, two of infantile Refsum disease, one of bifunctional protein deficiency, and two of rhizomelic chondrodysplasia punctata, The study illustrates the clinical and biochemical variability of this group of patients and the detailed studies that are required for classification. (C) 1999 Wiley-Liss, Inc.