Hurler's syndrome, an a-L-iduronidase deficiency

Reuben Matalon; Albert Dorfman

doi:10.1016/0006-291X(72)90586-4

Hurler's syndrome, an a-L-iduronidase deficiency

Reuben Matalon, Albert Dorfman

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

81 Scopus citations

Abstract

The activity of a-L-iduronidase was found to be deficient in extracts prepared from livers, cultured fibroblasts and urine of patients with Hurler's syndrome. Extracts from livers and fibroblasts of Hunter's and Sanfilippo's syndromes did not show such a deficiency. There was a diminution of activity in extracts of "I-cell" fibroblasts. a-L-Iduronidase is believed to be the underlying enzymic defect of Hurler's disease.

Original language	English (US)
Pages (from-to)	959-964
Number of pages	6
Journal	Biochemical and Biophysical Research Communications
Volume	47
Issue number	4
DOIs	https://doi.org/10.1016/0006-291X(72)90586-4
State	Published - May 26 1972
Externally published	Yes

ASJC Scopus subject areas

Biophysics
Biochemistry
Molecular Biology
Cell Biology

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title = "Hurler's syndrome, an a-L-iduronidase deficiency",

abstract = "The activity of a-L-iduronidase was found to be deficient in extracts prepared from livers, cultured fibroblasts and urine of patients with Hurler's syndrome. Extracts from livers and fibroblasts of Hunter's and Sanfilippo's syndromes did not show such a deficiency. There was a diminution of activity in extracts of {"}I-cell{"} fibroblasts. a-L-Iduronidase is believed to be the underlying enzymic defect of Hurler's disease.",

author = "Reuben Matalon and Albert Dorfman",

note = "Funding Information: This investigation was supported by PHS Res. Grant #AM-O5996 from the NIAMD, PHS Res. Grant #HD-04583 from the NICHD, and by a Res. Grant from the National Cystic Fibrosis Foundation.",

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T1 - Hurler's syndrome, an a-L-iduronidase deficiency

AU - Matalon, Reuben

AU - Dorfman, Albert

N1 - Funding Information: This investigation was supported by PHS Res. Grant #AM-O5996 from the NIAMD, PHS Res. Grant #HD-04583 from the NICHD, and by a Res. Grant from the National Cystic Fibrosis Foundation.

PY - 1972/5/26

Y1 - 1972/5/26

N2 - The activity of a-L-iduronidase was found to be deficient in extracts prepared from livers, cultured fibroblasts and urine of patients with Hurler's syndrome. Extracts from livers and fibroblasts of Hunter's and Sanfilippo's syndromes did not show such a deficiency. There was a diminution of activity in extracts of "I-cell" fibroblasts. a-L-Iduronidase is believed to be the underlying enzymic defect of Hurler's disease.

AB - The activity of a-L-iduronidase was found to be deficient in extracts prepared from livers, cultured fibroblasts and urine of patients with Hurler's syndrome. Extracts from livers and fibroblasts of Hunter's and Sanfilippo's syndromes did not show such a deficiency. There was a diminution of activity in extracts of "I-cell" fibroblasts. a-L-Iduronidase is believed to be the underlying enzymic defect of Hurler's disease.

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JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

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ER -

Hurler's syndrome, an a-L-iduronidase deficiency

Abstract

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