[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)].

Abstract:

:Mucopolysaccharidosis V (Scheie's syndrome, MPS-IS) is a very rare, autosomal recessively inherited metabolic disease. The degradation of dermatan sulphate and heparan sulphate is disturbed due to alpha-L-iduronidase deficiency, leading to intracellular storage and excessive urinary secretion of these substances. The characteristic clinical features are contractures (claw-like flexion of the fingers), umbilical and inguinal herniae, corneal opacity, hepatomegaly, myocardiopathy and minor skeletal malformations. A patient with Scheie's syndrome is now reported for the first time in Austria; the results of the clinical, biochemical, chromosomal, dermatoglyphic and electron optical investigations are described and discussed.

journal_name

Wien Klin Wochenschr

authors

Kovarik J,Vormittag W,Gebhart W,Ruthner U,Lubec G,Molzer B

subject

Has Abstract

pub_date

1978-12-08 00:00:00

pages

839-44

issue

23

eissn

0043-5325

issn

1613-7671

journal_volume

90

pub_type

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    doi:10.1007/s00508-014-0632-3

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  • Use of mesh cerclage in prevention of early preterm delivery: a promising new surgical method for women with dilated cervix and membrane herniation?

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  • Orosomucoid is an independent predictor of prognosis in chronic heart failure.

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    journal_title:Wiener klinische Wochenschrift

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    doi:

    authors: Wutte M,Hülsmann M,Berger R,Rödler S,Frey B,Stanek B,Pacher R

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  • [Abnormal cytological findings in cerebrospinal fluid with normal cell count (author's transl)].

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    更新日期:1991-01-01 00:00:00

  • [Endocrine constellation in androgenetic alopecia in the female].

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  • [Sex offenses on minor girls. Pediatric gynecologic management].

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  • [Human placental lactogen and chorionic gonadotropin in diabetic pregnancies (author's transl)].

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  • [Learning strategy or strategic learning? Gender-dependent success in medical studies at the Medical University of Vienna].

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