Pfaundler-Hurler Syndrome

Known as: MPS I H, Gargoylisms, Syndrome, Hurler's 
An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1935-2018
020406019352017

Papers overview

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Highly Cited
2009
Highly Cited
2009
OBJECTIVE Our goal was to evaluate the long-term safety and efficacy of recombinant human alpha-l-iduronidase (laronidase) in… (More)
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Highly Cited
2007
Highly Cited
2007
OBJECTIVE Our objective was to evaluate the safety, pharmacokinetics, and efficacy of laronidase in young, severely affected… (More)
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Highly Cited
2007
Highly Cited
2007
Hurler's syndrome (HS), the most severe form of mucopolysaccharidosis type-I, causes progressive deterioration of the central… (More)
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Hurler's syndrome (the most severe form of mucopolysaccharidosis type I) causes progressive deterioration of the… (More)
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Highly Cited
2002
Highly Cited
2002
Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal… (More)
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Highly Cited
1998
Highly Cited
1998
Untreated patients with Hurler syndrome (MPSIH) experience progressive neurologic deterioration and early death. Allogeneic bone… (More)
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Highly Cited
1997
Highly Cited
1997
An epidemiological study of the mucopolysaccharidoses (MPS) in Northern Ireland using multiple ascertainment sources was carried… (More)
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Highly Cited
1981
Highly Cited
1981
A one-year-old boy with type I H mucopolysaccharidosis (Hurler's disease) was given a bone-marrow transplant (BMT) from his… (More)
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Highly Cited
1973
Highly Cited
1973
1. A simple new quantitative micro method was developed to study the interaction of the cationic dye Alcian Blue 8GX and acid… (More)
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Highly Cited
1968
Highly Cited
1968
The biochemical defect of cultuired skin fibroblasts from Hurler or Hunter patients (faulty degradation of sulfated… (More)
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