Diagnosis of Metachromatic Leukodystrophy, Krabbe Disease, and Farber Disease after Uptake of Fatty Acid-labeled Cerebroside Sulfate into Cultured Skin Fibroblasts

Journal of Clinical Investigation ◽

10.1172/jci110607 ◽

1982 ◽

Vol 70 (1) ◽

pp. 89-97 ◽

Author(s):

Tooru Kudoh ◽

David A. Wenger

Keyword(s):

Metachromatic Leukodystrophy ◽

Skin Fibroblasts ◽

Krabbe Disease ◽

Farber Disease ◽

Cerebroside Sulfate ◽

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Metabolism of cerebroside sulphate and subcellular distribution of its metabolites in cultured skin fibroblasts derived from controls, metachromatic leukodystrophy, globoid cell leukodystrophy and farber disease

Journal of Inherited Metabolic Disease ◽

10.1007/bf01800085 ◽

1987 ◽

Vol 10 (3) ◽

pp. 293-296 ◽

Author(s):

K. Inui ◽

M. Furukawa ◽

J. Nishimoto ◽

S. Okada ◽

H. Yabuuchi

Keyword(s):

Subcellular Distribution ◽

Metachromatic Leukodystrophy ◽

Skin Fibroblasts ◽

Globoid Cell Leukodystrophy ◽

Farber Disease ◽

Cultured Skin ◽

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Metabolism of cerebroside sulfate and subcellular distribution of its metabolites in cultured skin fibroblasts from controls, metachromatic leukodystrophy, and globoid cell leukodystrophy.

Journal of Clinical Investigation ◽

10.1172/jci113322 ◽

1988 ◽

Vol 81 (2) ◽

pp. 310-317 ◽

Author(s):

K Inui ◽

M Furukawa ◽

S Okada ◽

H Yabuuchi

Keyword(s):

Subcellular Distribution ◽

Metachromatic Leukodystrophy ◽

Skin Fibroblasts ◽

Globoid Cell Leukodystrophy ◽

Cerebroside Sulfate ◽

Cultured Skin ◽

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Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred

Neurology ◽

10.1212/wnl.32.5.540 ◽

1982 ◽

Vol 32 (5) ◽

pp. 540-540 ◽

Author(s):

B. P. O'Neill ◽

H. W. Moser ◽

L. C. Marmion

Keyword(s):

Skin Fibroblasts ◽

Disease Expression ◽

Three Generations ◽

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Glucose-free medium exacerbatesmicrovesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test

Journal of Inherited Metabolic Disease ◽

10.1023/a:1022039206660 ◽

2002 ◽

Vol 25 (7) ◽

pp. 547-555 ◽

Author(s):

D. L. Renaud ◽

V. Edwards ◽

G. J. Wilson ◽

I. Tein

Keyword(s):

Fatty Acid Oxidation ◽

Screening Test ◽

Skin Fibroblasts ◽

Acid Oxidation ◽

Genetic Defects ◽

Free Medium ◽

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Assay for cerebroside sulfate (sulfatide) sulfatase in cultured skin fibroblasts with the natural activator protein

Clinica Chimica Acta ◽

10.1016/0009-8981(87)90266-x ◽

1987 ◽

Vol 168 (1) ◽

pp. 55-68 ◽

Author(s):

Mary Lee-Vaupel ◽

Ernst Conzelmann

Keyword(s):

Skin Fibroblasts ◽

Cerebroside Sulfate ◽

Activator Protein ◽

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Stimulation of fatty acid uptake and triglyceride synthesis in human cultured skin fibroblasts and adipocytes by a serum protein

Biochemical and Biophysical Research Communications ◽

10.1016/s0006-291x(87)80480-1 ◽

1987 ◽

Vol 144 (1) ◽

pp. 94-100 ◽

Author(s):

K. Cianflone ◽

P.O. Kwiterovich ◽

M. Walsh ◽

A. Forse ◽

M.A. Rodriguez ◽

...

Keyword(s):

Serum Protein ◽

Fatty Acid Uptake ◽

Skin Fibroblasts ◽

Acid Uptake ◽

Triglyceride Synthesis ◽

Cultured Skin ◽

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Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts

Journal of Inherited Metabolic Disease ◽

10.1007/bf01799277 ◽

1996 ◽

Vol 19 (3) ◽

pp. 379-380 ◽

Author(s):

W. C. Ip ◽

J. W. Hammond ◽

B. Wilcken

Keyword(s):

Fatty Acid Oxidation ◽

Dehydrogenase Deficiency ◽

Normal Activity ◽

Skin Fibroblasts ◽

Acid Oxidation ◽

Oxidation Activity ◽

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Effects of exogenous monounsaturated fatty acids on fatty acid metabolism in cultured skin fibroblasts from adrenoleukodystrophy patients

Journal of the Neurological Sciences ◽

10.1016/0022-510x(92)90170-p ◽

1992 ◽

Vol 109 (2) ◽

pp. 207-214 ◽

Author(s):

Robert Wilson ◽

Douglas R. Tocher ◽

John R. Sargent

Keyword(s):

Fatty Acids ◽

Fatty Acid Metabolism ◽

Acid Metabolism ◽

Monounsaturated Fatty Acids ◽

Skin Fibroblasts ◽

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Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2–Deficient Cultured Skin Fibroblasts by Bezafibrate

Pediatric Research ◽

10.1203/01.pdr.0000083001.91588.bb ◽

2003 ◽

Vol 54 (4) ◽

pp. 446-451 ◽

Author(s):

Fatima Djouadi ◽

Jean-Paul Bonnefont ◽

Laure Thuillier ◽

Véronique Droin ◽

Noman Khadom ◽

...

Keyword(s):

Fatty Acid Oxidation ◽

Skin Fibroblasts ◽

Acid Oxidation ◽

Carnitine Palmitoyl Transferase ◽

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Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

Annals of Neurology ◽

10.1002/ana.410070607 ◽

1980 ◽

Vol 7 (6) ◽

pp. 542-549 ◽

Author(s):

Hugo W. Moser ◽

Ann B. Moser ◽

Nariko Kawamura ◽

Jerome Murphy ◽

Kunihiko Suzuki ◽

...

Keyword(s):

Skin Fibroblasts ◽

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