ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy

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 c...

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Veröffentlicht in:	Prenatal diagnosis 1997-07, Vol.17 (7), p.651-656
Hauptverfasser:	Ruiz, M., Coll, M. J., Pampols, T., Girós, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	adrenoleukodystrophy ALDP Amniotic Fluid - cytology ATP Binding Cassette Transporter, Sub-Family D, Member 1 ATP-Binding Cassette Transporters - biosynthesis Biological and medical sciences Chorionic Villi Sampling Female Fetal Proteins - biosynthesis Fibroblasts - pathology Genetic Linkage Gynecology. Andrology. Obstetrics Humans Immunochemistry Male Management. Prenatal diagnosis Medical sciences Membrane Proteins - biosynthesis peroxisomal diseases and prenatal diagnosis Peroxisomal Disorders - genetics Peroxisomal Disorders - metabolism Peroxisomal Disorders - pathology Pregnancy. Fetus. Placenta X Chromosome
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