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X-linked adrenoleukodystrophy: The Australasian experience
American journal of medical genetics, 1998-04, Vol.76 (5), p.420-423
Kirk, Edwin P.E.
Fletcher, Janice M.
Sharp, Peter
Carey, Bill
Poulos, Alfred
1998
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Kirk, Edwin P.E.
Fletcher, Janice M.
Sharp, Peter
Carey, Bill
Poulos, Alfred
Titel
X-linked adrenoleukodystrophy: The Australasian experience
Ist Teil von
American journal of medical genetics, 1998-04, Vol.76 (5), p.420-423
Ort / Verlag
New York: John Wiley & Sons, Inc
Erscheinungsjahr
1998
Quelle
MEDLINE
Beschreibungen/Notizen
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. Am. J. Med. Genet. 76:420–423, 1998. © 1998 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 0148-7299
eISSN: 1096-8628
DOI: 10.1002/(SICI)1096-8628(19980413)76:5<420::AID-AJMG10>3.0.CO;2-O
Titel-ID: cdi_proquest_miscellaneous_79811272
Format
–
Schlagworte
Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
,
Adrenoleukodystrophy - blood
,
Adrenoleukodystrophy - epidemiology
,
Adrenoleukodystrophy - genetics
,
Australia - epidemiology
,
Biological and medical sciences
,
carrier testing
,
Endocrinopathies
,
Fatty Acids - blood
,
Female
,
Genetic Linkage
,
Heterozygote
,
Humans
,
incidence
,
Male
,
Medical sciences
,
New Zealand - epidemiology
,
Non tumoral diseases. Target tissue resistance. Benign neoplasms
,
Pacific Islands - epidemiology
,
Phenotype
,
Retrospective Studies
,
Tropical medicine
,
X Chromosome - genetics
,
X-linked adrenoleukodystrophy
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