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Sandhoff Disease
Sandhoff disease
Overview
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Related in the Kosmos
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Lipid storage disorders
(13)
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gangliosidoses
Gaucher disease
Leukodystrophy, globoid cell
Multiple sulfatase deficiency
Schindler disease
Tay Sachs disease
Wolman disease
Niemann-Pick disease, type C
Niemann–Pick disease
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Lysosomal storage diseases
(39)
Alpha-mannosidosis
Batten disease
Cholesteryl ester storage disease
Galactosialidosis
Lipid storage disorder
Lipid storage disorder
Lysosomal disease
Metachromatic leukodystrophy
Mucolipidosis II
Neuronal ceroid lipofuscinosis
Salla disease
Sanfilippo syndrome
Sly syndrome
Aspartylgl- ucosaminuria
Canavan disease
Cystinosis
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gaucher disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
Leukodystrophy, globoid cell
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Niemann-Pick disease, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Schindler disease
Sialidosis
Tay Sachs disease
Wolman disease
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Autosomal recessive disorders
(23)
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
Cerebro-oc- ulo-facio-skeletal syndrome
SCAD deficiency
Fucosidosis
Fucosidosis
Hemophagocytic lymphohistiocytosis
3 methylcrotonyl-coa carboxylase deficiency
Shwachman Diamond syndrome
Tay Sachs disease
Gangliosidoses
Farber disease
Multiple sulfatase deficiency
Wolman disease
Leukodystrophy, globoid cell
Gaucher disease
Batten disease
Lipid storage disorder
Metachromatic leukodystrophy
Neuronal ceroid lipofuscinosis
Salla disease
Sly syndrome
Alpha-mannosidosis
Sanfilippo syndrome
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Rare diseases
(25)
Alexander disease
Stickler syndrome
Tay Sachs disease
Tay-sachs disease, ab variant
GM2 gangliosidoses
GM2 gangliosidoses
GM1 gangliosidoses
Gangliosidoses
Cholesteryl ester storage disease
Farber disease
Multiple sulfatase deficiency
Wolman disease
Leukodystrophy, globoid cell
Cerebro-oc- ulo-facio-skeletal syndrome
Gaucher disease
Lipid storage disorder
Metachromatic leukodystrophy
Galactosialidosis
Schindler disease
Neuronal ceroid lipofuscinosis
Salla disease
Fabry's disease
Sly syndrome
Fucosidosis
Alpha-mannosidosis
Sanfilippo syndrome
more...
Genetic disorders
(41)
Niemann-Pick disease, SMPD1-associated
Jansky-bielschowsky disease
Hyperostosis, cortical, congenital
Adrenoleuk- odystrophy
Hereditary sensory and autonomic neuropathies
Hereditary sensory and autonomic neuropathies
Galactosemias
Spondyloep- imetaphyseal dysplasia, Strudwick type
Spinal muscular atrophy
Spinal and bulbar muscular atrophy
Smith-Magenis syndrome
Spinocerebellar ataxia
Genetic disorder
Tay Sachs disease
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
GM2 gangliosidoses
GM1 gangliosidoses
Gangliosidoses
Cholesteryl ester storage disease
Farber disease
Multiple sulfatase deficiency
Wolman disease
Leukodystrophy, globoid cell
Cerebro-oc- ulo-facio-skeletal syndrome
Gaucher disease
Batten disease
Lipid storage disorder
Metachromatic leukodystrophy
Galactosialidosis
Schindler disease
Salla disease
Fabry's disease
Sly syndrome
SCAD deficiency
Fucosidosis
Alexander disease
Stickler syndrome
Hemophagocytic lymphohistiocytosis
Sanfilippo syndrome
3 methylcrotonyl-coa carboxylase deficiency
Shwachman Diamond syndrome
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Diseases and disorders
(61)
Sea-blue histiocyte syndrome
Progressive sclerosing poliodystrophy
Postpoliomyelitis syndrome
Glossopharyngeal nerve diseases
Purpura, schoenlein-henoch
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Physiologic nystagmus
Fetofetal transfusion
Histiocytosis non-langerhans-cell
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Sphingolipidoses
Encephalitis, arbovirus
Olfaction disorders
Intervertebral disk displacement
Rosenthal syndrome
Phytanic acid storage disease
Brachial plexus neuropathies
Optic neuropathy, ischemic
Spongioblastoma
Splenomegaly
Sotos syndrome
Temporal arteritis
Polychondritis
Tay Sachs disease
Cerebrotendineous xanthomatosis
GM2 gangliosidoses
GM1 gangliosidoses
Jansky-bielschowsky disease
Gangliosidoses
Cholesteryl ester storage disease
Farber disease
Multiple sulfatase deficiency
Wolman disease
Hyperostosis, cortical, congenital
Leukodystrophy, globoid cell
Lysosomal storage diseases
Hereditary sensory and autonomic neuropathies
Cerebro-oc- ulo-facio-skeletal syndrome
Gaucher disease
Batten disease
Lipid storage disorder
Metachromatic leukodystrophy
Galactosialidosis
Galactosemias
Spondyloep- imetaphyseal dysplasia, Strudwick type
Schindler disease
Neuronal ceroid lipofuscinosis
Salla disease
Fabry's disease
Sly syndrome
Fucosidosis
Alexander disease
Spinal muscular atrophy
Stickler syndrome
Spinal and bulbar muscular atrophy
Hemophagocytic lymphohistiocytosis
Sanfilippo syndrome
Shwachman Diamond syndrome
more...
Metabolic disorders
(60)
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Antithrombin III deficiency
Antithrombin III deficiency
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
GM2 gangliosidoses
Galactosemias
Galactosemic cataract
Gangliosidoses
Gaucher disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Lactose intolerance
Leukodystrophy, globoid cell
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Obesity
Obesogen
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Neurology
Myoclonic Encephalopathy of infants
Acquired epileptiform aphasia
Neurodegenerative disease
Tay Sachs disease
Adrenoleuk- odystrophy
Spongioblastoma
Temporal arteritis
Inborn errors of metabolism
(107)
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemias
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Leukodystrophy, globoid cell
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Phytanic acid storage disease
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Rotor syndrome
SCAD deficiency
Sarcosinemia
Schindler disease
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Lipids
Globosides
Glycolipid
GM1
Sphingolipids
Gangliosides
Ceramide
Motor neuron disease
(11)
Hirayama syndrome
ALS Association
ALS Society of Canada
Amyotrophic lateral sclerosis
Motor neurone disease
Motor neurone disease
People with motor neuron disease
Postpoliomyelitis syndrome
Primary lateral sclerosis
Spinal muscular atrophy
Split hand syndrome
Survival motor neuron spinal muscular atrophy
more...
See also
(20)
GM2 (ganglioside)
Enzymes
Hexosaminidase A
HEXB
Our Lady of Kibeho
Our Lady of Kibeho
Dana scully
Lysosomal
GM2A
Autosomal recessive
Ashkenazi Jewish
Enlarged liver
Series finale
Enzyme assay
Visceral leishmaniasis
Hexa
Arylsulfatase A
Cytopenia
Juvenile myelomonocytic leukemia
Beta-D
Miglustat
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