Identification of female carriers of adrenoleukodystrophy

Hugo W. Moser; Ann E. Moser; Joseph E. Trojak; Scott W. Supplee

doi:10.1016/S0022-3476(83)80775-6

Identification of female carriers of adrenoleukodystrophy

Hugo W. Moser, Ann E. Moser, Joseph E. Trojak, Scott W. Supplee

School of Medicine

Research output: Contribution to journal › Article › peer-review

80 Scopus citations

Abstract

The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.

Original language	English (US)
Pages (from-to)	54-59
Number of pages	6
Journal	The Journal of pediatrics
Volume	103
Issue number	1
DOIs	https://doi.org/10.1016/S0022-3476(83)80775-6
State	Published - Jul 1983

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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title = "Identification of female carriers of adrenoleukodystrophy",

abstract = "The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.",

author = "Moser, {Hugo W.} and Moser, {Ann E.} and Trojak, {Joseph E.} and Supplee, {Scott W.}",

note = "Funding Information: From The John F. Kennedy Institute, and the Departments of Neurology, Medicine, and Pediatrics, the Johns Hopkins University School of Medicine. Supported in part by a grant from March of Dimes/Birth Defects Foundation and by Grant HD 10981 from Public Health Service. Reprint requests: H. W. Moser, M.D., John F. Kennedy Institute, 707 N. Broadway, Baltimore, MD 21205. Copyright: Copyright 2014 Elsevier B.V., All rights reserved.",

year = "1983",

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doi = "10.1016/S0022-3476(83)80775-6",

language = "English (US)",

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T1 - Identification of female carriers of adrenoleukodystrophy

AU - Moser, Hugo W.

AU - Moser, Ann E.

AU - Trojak, Joseph E.

AU - Supplee, Scott W.

N1 - Funding Information: From The John F. Kennedy Institute, and the Departments of Neurology, Medicine, and Pediatrics, the Johns Hopkins University School of Medicine. Supported in part by a grant from March of Dimes/Birth Defects Foundation and by Grant HD 10981 from Public Health Service. Reprint requests: H. W. Moser, M.D., John F. Kennedy Institute, 707 N. Broadway, Baltimore, MD 21205. Copyright: Copyright 2014 Elsevier B.V., All rights reserved.

PY - 1983/7

Y1 - 1983/7

N2 - The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.

AB - The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.

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Identification of female carriers of adrenoleukodystrophy

Abstract

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