Literature DB >> 4260316

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

R Matalon, A Dorfman.   

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Year:  1972        PMID： 4260316     DOI： 10.1016/0006-291x(72)90586-4

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  27 in total

1.  Kniest syndrome with dominant inheritance and mucopolysacchariduria.

Authors:  H J Kim; N G Beratis; P Brill; E Raab; K Hirschhorn; R Matalon
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

2.  Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.

Authors:  A Hinek; S E Wilson
Journal:  Am J Pathol       Date:  2000-03       Impact factor: 4.307

3.  A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

Authors:  C A Pennock
Journal:  J Clin Pathol       Date:  1976-02       Impact factor: 3.411

4.  The mucopolysaccharidoses.

Authors:  C A Pennock; I C Barnes
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

5.  Specificity of flavobacterial glycuronidases acting on disaccharides derived from glycosaminoglycans.

Authors:  P Hovingh; A Linker
Journal:  Biochem J       Date:  1977-08-01       Impact factor: 3.857

6.  Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.

Authors:  S Fujibayashi; R Minami; Y Ishikawa; K Wagatsuma; T Nakao; S Tsugawa
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  The disorder of hyaluronic acid metabolism in cultured skin fibroblasts derived from a patient with the Hurler syndrome.

Authors:  R J Germinario; A Kahlenberg; L Pinsky
Journal:  Biochem J       Date:  1973-03       Impact factor: 3.857

8.  Corneal clouding in GM1-generalized gangliosidosis.

Authors:  A Babarik; P F Benson; A H Fensom
Journal:  Br J Ophthalmol       Date:  1976-08       Impact factor: 4.638

9.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

Review 10.  Human chromosome 22.

Authors:  J C Kaplan; A Aurias; C Julier; M Prieur; M F Szajnert
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318
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