1997
DOI: 10.1002/(sici)1097-0223(199707)17:7<651::aid-pd131>3.0.co;2-h
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ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy

Abstract: X‐linked adrenoleukodystrophy (X‐ALD) is due to an impairment in the peroxisomal β‐oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and chorionic villus cells (CCV), but some misdiagnoses have been reported. For this reason, some authors suggest the use of more than one strategy to minimize the risk of pitfalls. In this study we show, by immunochemic… Show more

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Cited by 13 publications
(1 citation statement)
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“…Mutation analysis is the most reliable technique for heterozygote identification [7] and is now available on a service basis. Prenatal diagnosis is available [43,50,69].…”
Section: Diagnosismentioning
confidence: 99%
“…Mutation analysis is the most reliable technique for heterozygote identification [7] and is now available on a service basis. Prenatal diagnosis is available [43,50,69].…”
Section: Diagnosismentioning
confidence: 99%