The carrier state for X-linked adrenoleukodystrophy;Draagsterschap van X-gebonden adrenoleukodystrofie

Nederlands Tijdschrift voor Geneeskunde

Volumn 144, Issue 37, 2000, Pages 1764-1768

  Van Geel, B M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL CORTEX INSUFFICIENCY; ADRENOLEUKODYSTROPHY; ARTHRALGIA; ARTICLE; BONE MARROW TRANSPLANTATION; DISEASE CARRIER; ENDOCRINE GLAND; FATTY ACID BLOOD LEVEL; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; LOW BACK PAIN; MUSCLE CRAMP; MUSCLE SPASM; MUTATION; NERVOUS SYSTEM; PALLIATIVE THERAPY; PRENATAL DIAGNOSIS; PROTEIN DETERMINATION; SCREENING; X CHROMOSOME LINKAGE;

ADRENAL INSUFFICIENCY; ADRENOLEUKODYSTROPHY; AGE OF ONSET; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; PEROXISOMAL DISORDERS; PHENOTYPE; PREVALENCE;

EID: 0034626102     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Lorenzo's oil
2. X-linked adrenoleukodystrophy: Clinical presentation, diagnosis and therapy
3. Adrenoleukodystrophy: Phenotypes, genetics, pathogenesis and therapy
4. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: A survey of 30 kindreds
5. Adrenoleukodystrophy: Evidence for X-linkage, inactivation and selection favouring the mutant allele in heterozygous cells
6. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
7. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
8. Peroxisomal disorders: Post and prenatal diagnosis based on a new classification with flowcharts
9. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
10. X-linked adrenoleukodystrophy: Genes, mutations and phenotypes
11. Peroxisomal disorders: Genotype, phenotype, major neuropathological lesions, and pathogenesis
12. Delay in diagnosis of X-linked adrenoleukodystrophy
13. A family with sudanophilic leukodystrophy
14. Spastische paraparese en bijnierschorsinsufficientie: Adrenomyeloneuropathie
15. Clinical aspects on adrenoleukodystrophy and adrenomyeloneuropathy
16. Assessment of adrenal function in women heterozygous for adrenoleukodystrophy
17. Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?
18. X-Chromosome inactivation in symptomatic heterozygotes of X-linked adrenoleukodystrophy
19. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation
20. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metaehromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome
21. Identification of female carriers of adrenoleukodystrophy
22. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
23. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
24. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy
25. Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy
26. Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts
27. Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
28. Lovastatin for X-linked adrenoleukodystrophy