Literature DB >> 26836

Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.

C W Hall, I Liebaers, P Di Natale, E F Neufeld.   

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Year:  1978        PMID: 26836     DOI: 10.1016/0076-6879(78)50048-7

Source DB:  PubMed          Journal:  Methods Enzymol        ISSN: 0076-6879            Impact factor:   1.600


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  53 in total

1.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Structure of heparan sulphate oligosaccharides and their degradation by exo-enzymes.

Authors:  A Linker
Journal:  Biochem J       Date:  1979-12-01       Impact factor: 3.857

3.  Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates.

Authors:  C Freeman; J J Hopwood
Journal:  Biochem J       Date:  1991-10-15       Impact factor: 3.857

4.  Basic fibroblast growth factor does not prevent heparan sulphate proteoglycan catabolism in intact cells, but it alters the distribution of the glycosaminoglycan degradation products.

Authors:  S Tumova; B A Hatch; D J Law; K J Bame
Journal:  Biochem J       Date:  1999-02-01       Impact factor: 3.857

5.  Multiple sulfatase deficiency with a novel biochemical presentation.

Authors:  G Constantopoulos
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

6.  Variants of vaccinia virus hemagglutinin altered in intracellular transport.

Authors:  H Shida
Journal:  Mol Cell Biol       Date:  1986-11       Impact factor: 4.272

7.  Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.

Authors:  G Hug; S Soukup; G Chuck; M Ryan
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

8.  A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses.

Authors:  D A Gibbs; E Spellacy; R Tompkins; R W Watts; J F Mowbray
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

9.  A canine model of human alpha-L-iduronidase deficiency.

Authors:  E Spellacy; R M Shull; G Constantopoulos; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1983-10       Impact factor: 11.205

10.  Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis.

Authors:  Rolando Cimaz; Giovanni Valentino Coppa; Isabelle Koné-Paut; Bianca Link; Gregory M Pastores; Maria Rua Elorduy; Charles Spencer; Carter Thorne; Nico Wulffraat; Bernhard Manger
Journal:  Pediatr Rheumatol Online J       Date:  2009-10-23       Impact factor: 3.054

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