对一例疑似Hurler-Scheie综合征复合病例的临床超微结构及组织培养研究。 - Suppr

Clinical ultrastructural and tissue culture studies in a possible compound Hurler-Scheie case.

作者信息

Tondeur M, Vamos-Hurwitz E, Cantz M, Cremer N, Libert J, Pardou A

出版信息

Acta Paediatr Belg. 1976 Apr-Jun;29(2):109-15.

PMID:826105

Abstract

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Clinical ultrastructural and tissue culture studies in a possible compound Hurler-Scheie case.

Acta Paediatr Belg. 1976 Apr-Jun;29(2):109-15.

Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.

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Absence of alpha-L-iduronidase activity in various tissues from two sibs affected with presumably the Hurler-Scheie compound syndrome.

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The clinical spectrum of alpha-L-iduronidase deficiency.

Am J Med Genet. 1985 Mar;20(3):471-81. doi: 10.1002/ajmg.1320200308.

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

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The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features.

Pediatrics. 1976 Jan;57(1):111-22.

[Compound Hurler-Scheie disease in 3 siblings].

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Hurler-Scheie phenotype associated with consanguinity.

J Inherit Metab Dis. 1989;12 Suppl 2:365-8. doi: 10.1007/978-94-009-1069-0_53.

alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate.

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Mucopolysaccharidosis type V. (Scheie syndrome). A postmortem study by multidisciplinary techniques with emphasis on the brain.

Arch Pathol Lab Med. 1976 May;100(5):237-45.

引用本文的文献

Computed tomography studies on patients with mucopolysaccharidoses.

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Hurler-Scheie phenotype: a report of two pairs of inbred sibs.

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Clinical ultrastructural and tissue culture studies in a possible compound Hurler-Scheie case.

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Clinical ultrastructural and tissue culture studies in a possible compound Hurler-Scheie case.

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