Literature DB >> 2512446

Hurler-Scheie phenotype associated with consanguinity.

D L Davies1, G N Dutton, J Farquharson, R W Logan, J L Tolmie.   

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Year:  1989        PMID: 2512446     DOI: 10.1007/978-94-009-1069-0_53

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  8 in total

Review 1.  A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome.

Authors:  C B Whitley; R J Gorlin; W Krivit
Journal:  Am J Med Genet       Date:  1987-09

2.  The measurement of acid mucopolysaccharides (glycosaminoglycans) in amniotic fluid and urine.

Authors:  D M Duncan; R W Logan; M A Ferguson-Smith; F Hall
Journal:  Clin Chim Acta       Date:  1973-04-19       Impact factor: 3.786

3.  Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses.

Authors:  V A McKusick; R R Howell; I E Hussels; E F Neufeld; R E Stevenson
Journal:  Lancet       Date:  1972-05-06       Impact factor: 79.321

Review 4.  The clinical spectrum of alpha-L-iduronidase deficiency.

Authors:  M Roubicek; J Gehler; J Spranger
Journal:  Am J Med Genet       Date:  1985-03

5.  Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.

Authors:  O T Mueller; T B Shows; J M Opitz
Journal:  Am J Med Genet       Date:  1984-07

6.  Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells.

Authors:  C W Hall; E F Neufeld
Journal:  Arch Biochem Biophys       Date:  1973-10       Impact factor: 4.013

7.  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

8.  Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.

Authors:  E H Schuchman; R J Desnick
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

  8 in total

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