Literature DB >> 4240150

Beta-galactosidase deficiency in the hurler syndrome.

M MacBrinn, S Okada, M Woollacott, V Patel, M W Ho, A L Tappel, J S O'Brien.   

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Year:  1969        PMID： 4240150     DOI： 10.1056/NEJM196908142810702

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  13 in total

1.  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

2.  The mucopolysaccharidoses.

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

3.  An improved method for the detection of beta-galactosidase activity, and its application to G MI-gangliosidosis and mucopolysaccharidosis.

Authors:  B D Lake
Journal:  Histochem J       Date:  1974-03

4.  Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus.

Authors:  M Crawfurd; M F Dean; D M Hunt; D R Johnson; R R MacDonald; H Muir; E A Wright; C R Wright
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

5.  Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.

Authors:  K Furusho; M Vetrella; E Latta
Journal:  Z Kinderheilkd       Date:  1971

6.  The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation.

Authors:  J C Fratantoni; C W Hall; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1969-09       Impact factor: 11.205

7.  Clinical and enzymatic variations in G M1 generalized gangliosidosis.

Authors:  H S Singer; I A Schafer
Journal:  Am J Hum Genet       Date:  1972-07       Impact factor: 11.025

8.  Comparison of Endovascular and Intraventricular Gene Therapy With Adeno-Associated Virus-α-L-Iduronidase for Hurler Disease.

Authors:  Christopher G Janson; Liudmila G Romanova; Paola Leone; Zhenhong Nan; Lalitha Belur; R Scott McIvor; Walter C Low
Journal:  Neurosurgery       Date:  2014-01       Impact factor: 4.654

9.  Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I.

Authors:  Charles H Vite; Igor Nestrasil; Anton Mlikotic; Jackie K Jens; Elizabeth M Snella; William Gross; Elsa G Shapiro; Victor Kovac; James M Provenzale; Steven Chen; Steven Q Le; Shih-hsin Kan; Shida Banakar; Raymond Y Wang; Mark E Haskins; N Matthew Ellinwood; Patricia I Dickson
Journal:  Comp Med       Date:  2013-04       Impact factor: 0.982

10.  Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus.

Authors:  T Ikeno; R Minami; K Wagatsuma; S Fujibayashi; T Nakao; K Abo; S Tsugawa; S Taniguchi; Y Takasago
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
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