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[Disorders associated with alterations in single peroxisomal proteins, including X-linked adrenoleukodystrophy].
- Source :
-
Revista de neurologia [Rev Neurol] 1999 Jan; Vol. 28 Suppl 1, pp. S55-8. - Publication Year :
- 1999
-
Abstract
- X-linked adrenoleukodystrophy is the prototype of the disorders that involve a single peroxisomal protein, and it is by far the most common peroxisomal disorder. The gene that is defective in this disorder is a peroxisomal membrane protein involved, in an as yet undefined manner, in the degradation of very long chain fatty acids. All of the peroxisomal disorders can be identified pre- and postnatally by non-invasive tests.
- Subjects :
- Adolescent
Adrenoleukodystrophy enzymology
Adrenoleukodystrophy genetics
Adult
Child
Child, Preschool
Female
Humans
Infant
Male
Middle Aged
Peroxisomal Disorders genetics
Peroxisomal Disorders mortality
Phenotype
Point Mutation genetics
Prenatal Diagnosis
Survival Rate
Carrier Proteins genetics
Peroxisomal Disorders enzymology
X Chromosome genetics
Subjects
Details
- Language :
- Spanish; Castilian
- ISSN :
- 0210-0010
- Volume :
- 28 Suppl 1
- Database :
- MEDLINE
- Journal :
- Revista de neurologia
- Publication Type :
- Academic Journal
- Accession number :
- 10778490