Literature DB >> 4327937

Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

M Tondeur, E Vamos-Hurwitz, S Mockel-Pohl, J P Dereume, N Cremer, H Loeb.   

Abstract

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Year:  1971        PMID: 4327937     DOI: 10.1016/s0022-3476(71)80143-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  28 in total

1.  I-cell disease (Mucolipidosis II).

Authors:  M Kabra; S Gulati; M Kaur; J Sharma; A Singh; V Chopra; P S Menon; V Kalra
Journal:  Indian J Pediatr       Date:  2000-09       Impact factor: 1.967

2.  The missing link in lysosomal enzyme targeting.

Authors:  W S Sly
Journal:  J Clin Invest       Date:  2000-03       Impact factor: 14.808

3.  I-cell disease.

Authors:  P J Milla
Journal:  Arch Dis Child       Date:  1978-06       Impact factor: 3.791

4.  Carbohydrate composition of purified serum glycoproteins in mucolipidosis II and mucolipidosis III.

Authors:  H Freeze; B C Kress; J C Williams; M Cerda-Ruiz; A L Miller
Journal:  Mol Cell Biochem       Date:  1978-10-13       Impact factor: 3.396

5.  Enveloped virus acquires membrane defect when passaged in fibroblasts from I-cell disease patients.

Authors:  W S Sly; E Lagwinska; S Schlesinger
Journal:  Proc Natl Acad Sci U S A       Date:  1976-07       Impact factor: 11.205

6.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

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

7.  Prenatal diagnosis of mucolipidosis II (I-cell disease).

Authors:  J Gehler; M Cantz; M Stoeckenius; J Spranger
Journal:  Eur J Pediatr       Date:  1976-06-08       Impact factor: 3.183

8.  Endocytosis of beta-N-acetylglucosaminidase from sections of mucolipidosis-II and-III fibroblasts by non-parenchymal rat liver cells.

Authors:  K Ullrich; K von Figura
Journal:  Biochem J       Date:  1979-07-15       Impact factor: 3.857

9.  The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.

Authors:  G Bach; R Friedman; B Weissmann; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1972-08       Impact factor: 11.205

10.  Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II).

Authors:  H Yamada; M Ohya; T Higeta; S Kinoshita
Journal:  Childs Nerv Syst       Date:  1987       Impact factor: 1.475

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