Literature DB >> 4282259

Chondroitin-6-sulfate mucopolysaccharidosis in conjuntion withlymphopenia, defective cellular immunity and the nephrotic syndrome.

B S Danes, M Degnan.   

Abstract

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Year:  1974        PMID： 4282259

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  7 in total

1.  The human gene for beta glucuronidase is on chromosome 7.

Authors:  U Francke
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

2.  Phenotypic expression in mucopolysaccharidosis VII.

Authors:  P L Bernsen; R A Wevers; F J Gabreëls; K J Lamers; A E Sonnen; J H Stekhoven
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-06       Impact factor: 10.154

3.  Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay.

Authors:  C E Bell; W S Sly; F E Brot
Journal:  J Clin Invest       Date:  1977-01       Impact factor: 14.808

4.  Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis.

Authors:  I Maire; G Mandon; M T Zabot; M Mathieu; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

5.  Beta-glucuronidase deficiency in a girl with unusual clinical features.

Authors:  R A Pfeiffer; H Kresse; N Bäumer; E Sattinger
Journal:  Eur J Pediatr       Date:  1977-10-12       Impact factor: 3.183

6.  Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?

Authors:  I Goto; H Nakai; T Tabira; N Shinno; Y Tanaka; H Shibasaki; Y Kuroiwa
Journal:  J Neurol       Date:  1983       Impact factor: 4.849

7.  Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Authors:  Adriana M Montaño; Ngu Lock-Hock; Robert D Steiner; Brett H Graham; Marina Szlago; Robert Greenstein; Mercedes Pineda; Antonio Gonzalez-Meneses; Mahmut Çoker; Dennis Bartholomew; Mark S Sands; Raymond Wang; Roberto Giugliani; Alfons Macaya; Gregory Pastores; Anastasia K Ketko; Fatih Ezgü; Akemi Tanaka; Laila Arash; Michael Beck; Rena E Falk; Kaustuv Bhattacharya; José Franco; Klane K White; Grant A Mitchell; Loreta Cimbalistiene; Max Holtz; William S Sly
Journal:  J Med Genet       Date:  2016-02-23       Impact factor: 6.318
  7 in total

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