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Hurler-Scheie Syndrome

Known as: MPS I H-S, Mucopolysaccharidosis Type Ih S, MUCOPOLYSACCHARIDOSIS TYPE IH/S 
An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme… 
National Institutes of Health

Related topics

Related topics

22 relations
Aortic Valve InsufficiencyAutosomal recessive inheritanceDilated left atriumDilated left ventricle

Broader (3)

Enzyme DeficiencyMucopolysaccharidosesMucopolysaccharidosis I

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I). 
Review
2016
Review
2016
Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
BACKGROUND Mucopolysaccharidosis type I can be classified as three clinical sub-types; Hurler syndrome, Hurler-Scheie syndrome… 
2003
2003
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
Review
2002
Review
2002
Inherited metabolic disorders in Thailand.
The study of inborn errors of metabolism (IEM) in Thailand is in its infancy. The majority are clinically diagnosed since there… 
1996
1996
Grouped papules in Hurler-Scheie syndrome.
1985
1985
Morbus Hurler-Scheie-Compound bei drei Geschwistern
: The present paper describes 3 out of a total of 9 siblings, aged 9, 17, and 18, with the following symptoms: gargoyle-like… 
1979
1979
Post- and pre-natal assessment of alpha-L-iduronidase deficiency with a radiolabelled natural substrate.
1. α-l-Iduronidase activity was assayed by incubation of iduronosyl anhydro[1- 3 H]mannitol 6-sulphate with homogenates of… 
1978
1978
Hurler/Scheie Phenotype
: An inbred sibship with corneal opacities and deficient alpha-L-iduronidase activity showed signs of a Hurler/Scheie phenotype… 
1976
1976
Evidence for degradation of heparan sulfate by endoglycosidases: glucosamine and hexuronic acid are reducing terminals of intracellular heparan sulfate from human skin fibroblasts.
1968
1968
Lipid abnormalities in a variant of the Hurler syndrome.
Numerous studies have established that the excretion in urine and the deposition in tissues and in cultured fibroblasts of acid… 
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