Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy
OBJECTIVE: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by progressive demyelination of the central nervous system, adrenal cortex insufficiency and accumulation of saturated very long chain fatty acids (VLCFAs) in tissues and body fluids due to the imp...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 43(2005), 5 vom: 30. Mai, Seite 345-9 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2005
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Journal Article Research Support, Non-U.S. Gov't ABCD1 protein, human ATP Binding Cassette Transporter, Subfamily D, Member 1 ATP-Binding Cassette Transporters Fatty Acids |