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Sanfilippo Syndrome
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Sanfilippo syndrome
Overview
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Lysosomal storage diseases
(39)
Hunter syndrome
Hurler syndrome
Leukodystrophy, globoid cell
Morquio syndrome
Mucolipidoses
Mucolipidoses
Mucolipidosis II
Mucopolysa- ccharidosis
Pseudo-Hurler polydystrophy
Sly syndrome
Wolman disease
Alpha-mannosidosis
Aspartylgl- ucosaminuria
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
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pycnodysostosis
Salla disease
Sandhoff disease
Schindler disease
Sialidosis
Tay-Sachs disease
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Autosomal recessive disorders
(11)
Shwachman syndrome
Ablepharon macrostomia syndrome
Glanzmann thrombasthenia
Meckel-Gruber syndrome
Mucopolysa- ccharidosis
Mucopolysa- ccharidosis
Sly syndrome
Hurler syndrome
Morquio syndrome
Leukodystrophy, globoid cell
Mucolipidoses
Wolman disease
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Rare diseases
(9)
Multiple hereditary exostoses
Popliteal pterygium syndrome
Sly syndrome
Morquio syndrome
Leukodystrophy, globoid cell
Leukodystrophy, globoid cell
Ablepharon macrostomia syndrome
Wolman disease
Glanzmann thrombasthenia
Meckel-Gruber syndrome
more...
Syndromes
(9)
Hereditary sensory and autonomic neuropathies
Fetofetal transfusion
Silver russell syndrome
Smith-Magenis syndrome
Shprintzen syndrome
Shprintzen syndrome
Sly syndrome
Hurler syndrome
Hunter syndrome
Ablepharon macrostomia syndrome
more...
Genetic disorders
(25)
Glutaricaciduria
Hyperostosis, cortical, congenital
Adrenoleuk- odystrophy
Refractory anemia with ringed sideroblasts
Galactosemias
Galactosemias
Thrombocytopenia absent radius
VATER syndrome
Mucopolysa- ccharidosis
Sly syndrome
Hurler syndrome
Morquio syndrome
Shwachman syndrome
Leukodystrophy, globoid cell
Hunter syndrome
Hereditary sensory and autonomic neuropathies
Pseudo-Hurler polydystrophy
Multiple hereditary exostoses
Popliteal pterygium syndrome
Mucolipidoses
Ablepharon macrostomia syndrome
Smith-Magenis syndrome
Shprintzen syndrome
Wolman disease
Glanzmann thrombasthenia
Meckel-Gruber syndrome
more...
Diseases and disorders
(59)
Serous meningitis
Skin infection
Reticular dysgenesis
Acute biphenotypic leukemia
Maroteaux-Lamy syndrome
Maroteaux-Lamy syndrome
Lymphohistiocytosis
Craniofrontonasal dysplasia
Myelofibrosis
N acetyltransferase deficiency
Glossopharyngeal nerve diseases
Floating harbor syndrome
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
Opitz syndrome
Intervertebral disk displacement
Rosenthal syndrome
Leukemia
Brachial plexus neuropathies
Optic neuropathy, ischemic
X-linked hypophosphatemic rickets
San Joaquin valley fever
Mental retardation
Subacute sclerosing leukoencephalitis
Inborn error of metabolism
Ollier disease
Syphilitic myelopathy
Squamous cell cancer
Mucopolysa- ccharidosis
Sly syndrome
Hurler syndrome
Glutaricaciduria
Morquio syndrome
Lysosomal storage diseases
Shwachman syndrome
Leukodystrophy, globoid cell
Hyperostosis, cortical, congenital
Hunter syndrome
Hereditary sensory and autonomic neuropathies
Fetofetal transfusion
Refractory anemia with ringed sideroblasts
Galactosemias
Thrombocytopenia absent radius
VATER syndrome
Multiple hereditary exostoses
Popliteal pterygium syndrome
Mucolipidoses
Ablepharon macrostomia syndrome
Shprintzen syndrome
Wolman disease
Glanzmann thrombasthenia
more...
Hydrolases
N-acetylgl- ucosamine-6-sulfatase
Alpha-L iduronidase
Alpha-N-ac- etylglucosaminidase
Beta galactosidase
Iduronate sulfatase
Galactosamine-6 sulfatase
See also
(20)
Semivegetarian
Second cranial nerve
Single palmar crease
Scrofuloderma
Schizophrenia, disorganized
Schizophrenia, disorganized
Senile lentigines
Glycosaminoglycans
Heparan sulfate
Mucopolysaccharides
Heparan N-sulfatase
Acetyl-CoA- :alpha-glucosaminide acetyltransferase
Coarse facial features
Enzyme
Refractory anemia with excess blasts in transformation
Sulfatase
Enzyme replacement therapy
D-N-acetyl- glucosamine
Juvenile Myelomonocytic Leukemia (JMML)
Blindness
Enzymes
more...
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