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Hurler-scheie Syndrome
Hurler-Scheie Syndrome
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Skin conditions resulting from errors in metabolism
Morquio syndrome
Adrenoleuk- odystrophy
Hunter syndrome
Sialidosis
Autosomal recessive disorders
(10)
Scheie syndrome
Sly syndrome
Leukodystrophy, globoid cell
Sanfilippo syndrome
Mucolipidoses
Mucolipidoses
Wolman disease
Alpha-mannosidosis
Neuronal ceroid lipofuscinosis
Metachromatic leukodystrophy
Morquio syndrome
more...
Genetic disorders
(17)
Hyperostosis, cortical, congenital
Hereditary sensory and autonomic neuropathies
Galactosemias
Refractory anemia with ringed sideroblasts
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy
Schindler disease
Severe combined immunodeficiency
Scheie syndrome
Sly syndrome
Morquio syndrome
Leukodystrophy, globoid cell
Sanfilippo syndrome
Adrenoleuk- odystrophy
Hunter syndrome
Mucolipidoses
Wolman disease
Metachromatic leukodystrophy
more...
Syndromes
Fetofetal transfusion
Syndrome
Sly syndrome
Sanfilippo syndrome
Hunter syndrome
Hereditary sensory and autonomic neuropathies
Lysosomal storage diseases
(39)
Lysosomal storage disease
Mucolipidosis II
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's disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Leukodystrophy, globoid cell
Lipid storage disorder
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidoses
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Scheie syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Medical condition
(49)
Acute biphenotypic leukemia
Reticular dysgenesis
Lymphohistiocytosis
Glossopharyngeal nerve diseases
Purpura, schoenlein-henoch
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Physiologic nystagmus
Histiocytosis non-langerhans-cell
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Intervertebral disk displacement
Rosenthal syndrome
Alpha-l-iduronidase deficiency
Brachial plexus neuropathies
Optic neuropathy, ischemic
Hemangioma
Peroxisomal disorders
Dwarfism
Mental retardation
Myelofibrosis
Dysostosis
Metabolic diseases
Hydrocephalus
Prognathism
Skeletal dysplasia
Scheie syndrome
Sly syndrome
Morquio syndrome
Leukodystrophy, globoid cell
Hyperostosis, cortical, congenital
Lysosomal storage diseases
Sanfilippo syndrome
Hunter syndrome
Hereditary sensory and autonomic neuropathies
Fetofetal transfusion
Galactosemias
Refractory anemia with ringed sideroblasts
Schindler disease
Mucolipidoses
Wolman disease
Sialidosis
Neuronal ceroid lipofuscinosis
Metachromatic leukodystrophy
Severe combined immunodeficiency
more...
Diseases and disorders
(16)
Maroteaux-Lamy syndrome
Joint stiffness
Syndromes
Lymphohistiocytosis
Morquio syndrome
Morquio syndrome
Leukodystrophy, globoid cell
Lupus erythematosus, cutaneous
Refractory anemia with ringed sideroblasts
Wolman disease
Hemangioma
Peroxisomal disorders
Sialidosis
Dysostosis
Neuronal ceroid lipofuscinosis
Skeletal dysplasia
Metachromatic leukodystrophy
more...
Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Leukodystrophy, globoid cell
Metachromatic leukodystrophy
Pelizaeus-- Merzbacher disease
Zellweger syndrome
Glycosaminoglycans
(9)
Dermatan
Heparan
Mucopolysaccharide
Chondroitin sulfate
Heparin
Heparin
Heparinoid
Hyaluronan
Keratan sulfate
Restylane
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Medicine
Refractory anemia with excess blasts in transformation
Short stature
Idiopathic
Diseases and disorders
Hydrolases
Alpha-L iduronidase
Iduronate sulfatase
N-acetylgl- ucosamine-6-sulfatase
Galactosamine-6 sulfatase
N-acetylgl- ucosaminidase
Beta galactosidase
Symptoms
(10)
Coarse facial features
Cloudy cornea
Hearing impairment
Low nasal bridge
Skeletal deformities
Skeletal deformities
Hemorrhagic
Limited range of motion
Short stature
Mental retardation
Joint stiffness
more...
Definition
MPS I S (Scheie syndrome)
MPS II, Hunter syndrome
MPS III (Sanfilippo syndrome)
MPS IV (Morquio syndrome)
Metabolism
See also
(20)
Enzyme
Hurling
Heparan N-sulfatase
Acetyl-CoA- :alpha-glucosaminide acetyltransferase
Juvenile Myelomonocytic Leukemia (JMML)
Juvenile Myelomonocytic Leukemia (JMML)
MPS II
Enzyme replacement
Sugar chain
Autosomal recessive
Lysosomal
Electrocardiography
Genetic counseling
Www.mpssociety.ca
Www.mpssoc- iety.co.uk
Www.mpssociety.org
IVB
Idursulfase
Umbilical cord blood
Bone marrow transplantation
Clouding
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