X-linked adrenoleukodystrophy: The Australasian experience
| العنوان: | X-linked adrenoleukodystrophy: The Australasian experience |
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| المؤلفون: | Janice M. Fletcher, Alfred Poulos, Edwin P. Kirk, P. Sharp, Bill Carey |
| المصدر: | American Journal of Medical Genetics. 76:420-423 |
| بيانات النشر: | Wiley, 1998. |
| سنة النشر: | 1998 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Incidence (epidemiology), Retrospective cohort study, Disease, Carrier testing, medicine.disease, Asymptomatic, Endocrinology, Genetic linkage, Internal medicine, Medicine, Adrenoleukodystrophy, medicine.symptom, business, Genetics (clinical) |
| الوصف: | Our objective was to review the Australasian experience of X-linked adrenoleukodystrophy (ALD), to compare the spectrum of disease seen in Australasia with previously published data from elsewhere, and to assess the reliability of carrier testing. Study design was a retrospective review of records collected over a 15-year period, the setting was an international referral laboratory for the study of metabolic disease, and the subjects were all known cases of ALD diagnosed in Australia and New Zealand between 1981 and 1996 and their families. We estimate that the combined incidence of ALD and its variants in Australasia is at least 1.6 per 100,000. Of 95 affected males, 51 had cerebral adrenoleukodystrophy, 24 had adrenomyeloneuropathy, 15 had Addison's disease only, and 5 remained asymptomatic when last examined. However, the distribution of phenotypes among newly diagnosed patients has changed substantially over the last 15 years, with cerebral forms of the disease forming a decreasing proportion of new diagnoses. The measurement of plasma very long chain fatty acids (VLCFAs) alone detects 93% of women who can be proven to be carriers. The addition of genetic linkage studies or assay of VLCFAs in cultured fibroblasts improved this detection rate to the point that there were no obligate carriers who could not be detected using a combination of two or more techniques. |
| تدمد: | 1096-8628 0148-7299 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::2b8ed6232e88846ba8fc1a4a41218b8a https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<420::aid-ajmg10>3.0.co;2-o |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi...........2b8ed6232e88846ba8fc1a4a41218b8a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10968628 01487299 |
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