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Mucopolysaccharidosis Type I Hurler Syndrome
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Mucopolysaccharidosis type I Hurler syndrome
Overview
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Autosomal recessive disorders
Mucopolysa- ccharidosis, type I
Morquio syndrome
Mucopolysa- ccharidosis type VII
Sanfilippo syndrome
Mucolipidoses
Gangliosidosis
Gaucher disease
Genetic disorders
(12)
Hunter syndrome
Mucolipidosis III
Stickler syndrome
Genetic disorder
Fabry disease
Fabry disease
Mucopolysa- ccharidosis, type I
Morquio syndrome
Mucopolysa- ccharidosis type VII
Sanfilippo syndrome
Mucolipidoses
Gangliosidosis
Gaucher disease
more...
Medical condition
(17)
Alpha-l-iduronidase deficiency
Dwarfism
Lysosomal storage diseases
Dysostosis
Mental retardation
Mental retardation
Sialidosis
Skeletal dysplasia
Deafness
Mucopolysa- ccharidosis, type I
Morquio syndrome
Mucopolysa- ccharidosis type VII
Sanfilippo syndrome
Hunter syndrome
Mucolipidoses
Stickler syndrome
Fabry disease
Gaucher disease
more...
Lysosomal storage diseases
(39)
I-cell disease
Lysosomal storage disorders
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Krabbe disease
Lipid storage disorder
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidoses
Mucolipidosis III
Mucolipidosis type IV
Mucopolysa- ccharidosis type VII
Mucopolysa- ccharidosis, type I
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Tay-Sachs disease
Wolman disease
more...
Skin conditions resulting from errors in metabolism
Mucopolysa- ccharidosis, type I
Morquio syndrome
Hunter syndrome
Sialidosis
Fabry disease
Gaucher disease
Hepatology
Hepatosplenomegaly
Mucopolysa- ccharidosis, type I
Gaucher disease
Glycosaminoglycans
(9)
Dermatan
Heparan sulfate
Keratan sulfate
Mucopolysaccharide
Chondroitin sulfate
Chondroitin sulfate
Heparin
Heparinoid
Hyaluronan
Restylane
more...
Hydrolases
Alpha-L iduronidase
Iduronate sulfatase
Galactosamine-6 sulfatase
Beta galactosidase
Symptoms
(8)
Coarse facial features
Short stature
Hirsutism
Prognathism
Joint stiffness
Joint stiffness
Cloudy cornea
Skeletal abnormalities
Mental retardation
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Signs and tests
(9)
Aortic insufficiency
Culture - skin
Hearing impairment
Hepatomegaly
Inguinal hernia
Inguinal hernia
Umbilical hernia
Urine dermatan sulfate
X-ray of the skeleton
Prognathism
more...
See also
(20)
Enzyme
Acetyl-CoA- :alpha-glucosaminide acetyltransferase
Hurling
Syndromes
Metachromasia
Metachromasia
Maroteaux-Lamy syndrome
Hyperglyceridemia
MPS II
Lysosomal
Sulfatase
Bone marrow transplantation
Enzyme replacement therapy
Dominance (genetics)
GLB1
Clouding of the cornea
Www.mpssociety.org
Clouding
Umbilical cord blood transplantation
Idursulfase
Kyphosis
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