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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… 
National Institutes of Health

Related topics

Related topics

32 relations
Autosomal recessive inheritanceCardiomyopathiesCarpal Tunnel SyndromeChronic Obstructive Airway Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
mGluR5 and NMDA Receptors Drive the Experience- and Activity-Dependent NMDA Receptor NR2B to NR2A Subunit Switch
Review
2010
Review
2010
Physiology of bone loss.
Highly Cited
2006
Highly Cited
2006
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
SummaryTandem mass spectrometry is currently used in newborn screening programmes to quantify the level of amino acids and… 
Review
2004
Review
2004
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
Highly Cited
2001
Highly Cited
2001
Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper.
BACKGROUND Clinical differentiation among mucopolysaccharidosis, oligosaccharidosis, and mucolipidosis II and III is difficult… 
Highly Cited
2000
Highly Cited
2000
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Review
1991
Review
1991
Fucosidosis revisited: a review of 77 patients.
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all… 
Highly Cited
1973
Highly Cited
1973
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.
Skin fibroblasts cultured from patients affected with the Hunter syndrome are deficient in the activity of a protein, named the… 
Highly Cited
1965
Highly Cited
1965
ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM.
Highly Cited
1952
Highly Cited
1952
Gargoylism; a mucopolysaccharidosis.
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