Literature DB >> 150330

Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.

J Spranger, M Cantz, J Gehler, I Liebaers, W Theiss.   

Abstract

Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.

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Year:  1978        PMID: 150330     DOI: 10.1007/bf00441369

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  13 in total

1.  Letter: Hurler's syndrome with clear corneas.

Authors:  R J Gardner; J R Hay
Journal:  Lancet       Date:  1974-10-05       Impact factor: 79.321

2.  Hurler's syndromes without alpha-L-iduronidase deficiency.

Authors:  T Orii; K Sukegawa; R Minami; T Nakao
Journal:  Pediatrics       Date:  1977-11       Impact factor: 7.124

3.  Corneal clouding in the genetic mucopolysaccharidoses: a cell culture study.

Authors:  B S Danes
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

Review 4.  The systemic mucopolysaccharidoses.

Authors:  J Spranger
Journal:  Ergeb Inn Med Kinderheilkd       Date:  1972

5.  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

6.  Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.

Authors:  I Liebaers; E Neufeld
Journal:  Pediatr Res       Date:  1976-08       Impact factor: 3.756

7.  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

8.  The Hunter corrective factor. Purification and preliminary characterization.

Authors:  M Cantz; A Chrambach; G Bach; E F Neufeld
Journal:  J Biol Chem       Date:  1972-09-10       Impact factor: 5.157

9.  Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form.

Authors:  J R Lichtenstein; G L Bilbrey; V A McKusick
Journal:  Johns Hopkins Med J       Date:  1972-12

10.  The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

Authors:  E F Neufeld; I Liebaers; C J Epstein; S Yatziv; A Milunsky; B R Migeon
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025

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  1 in total

1.  Glaucoma in a case of Hurler disease.

Authors:  E Spellacy; J L Bankes; J Crow; R Dourmashkin; D Shah; R W Watts
Journal:  Br J Ophthalmol       Date:  1980-10       Impact factor: 4.638

  1 in total

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