TY - JOUR
T1 - Peroxisomal disorders
T2 - Clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families
AU - Steinberg, Steven J.
AU - Elçioglu, Nursel
AU - Slade, Christina M.
AU - Sankaralingam, Arun
AU - Dennis, Nicholas
AU - Mohammed, Shehla N.
AU - Fensom, Anthony H.
PY - 1999/8/27
Y1 - 1999/8/27
N2 - 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.
AB - 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.
KW - PEX genes
KW - Rhizomelic chondrodysplasia punctata
KW - Zellweger syndrome
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U2 - 10.1002/(SICI)1096-8628(19990827)85:5<502::AID-AJMG14>3.0.CO;2-T
DO - 10.1002/(SICI)1096-8628(19990827)85:5<502::AID-AJMG14>3.0.CO;2-T
M3 - Article
C2 - 10405451
AN - SCOPUS:0345517153
SN - 0148-7299
VL - 85
SP - 502
EP - 510
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 5
ER -