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Schindler Disease
Schindler disease
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Related in the Kosmos
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Lipid storage disorders
(13)
Angiokeratoma Corporis Diffusum
Farber disease
Krabbe disease
Niemann Pick disease
Sandhoff disease
Sandhoff disease
Wolman disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidosis
Gaucher's disease
Multiple sulfatase deficiency
Niemann-Pick disease, type C
Tay-Sachs disease
more...
Inborn errors of metabolism
(106)
ACADM deficiency
Amylo-1,6-- glucosidase deficiency
Aspartylgl- ucosaminuria
Ataxia with Lactic Acidosis, Type II
Fucosidosis
Fucosidosis
Lysosomal storage diseases
Lysosomal storage disorders
Pompe disease
Sly syndrome
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase 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
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
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease
Glycogen storage disease type I
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
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
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
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
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
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Metabolic disorders
(58)
Neuronal Ceroid Lipofuscinoses
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Alcohol flush reaction
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
Galactosemia
Galactosemic cataract
Gangliosidosis
Gaucher's disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Niemann Pick disease
Niemann-Pick disease, type C
Obesity
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
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...
Rare diseases
(18)
Acral dysostosis with facial and genital abnormalities
Galactosialidosis
Beta-mannosidosis
Salla disease
Alpha-mannosidosis
Alpha-mannosidosis
Morquio
Fibrodysplasia ossificans progressiva
Fucosidosis
Aspartylgl- ucosaminuria
Sly syndrome
Wolman disease
Farber disease
Angiokeratoma Corporis Diffusum
Sandhoff disease
Neuronal Ceroid Lipofuscinoses
Krabbe disease
Pompe disease
Niemann Pick disease
more...
Lysosomal storage diseases
(39)
Alpha-neuraminidase deficiency
Hurler syndrome
Mucolipidosis II
Mucolipidosis IV
Scheie syndrome
Scheie syndrome
Alpha-mannosidosis
Angiokeratoma Corporis Diffusum
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher's disease
Glycoproteinosis
Hunter syndrome
Krabbe disease
Lipid storage disorder
Lysosomal storage disorders
Metachromatic leukodystrophy
Morquio
Mucolipidosis
Multiple sulfatase deficiency
Neuronal Ceroid Lipofuscinoses
Niemann Pick disease
Niemann-Pick disease, type C
Pompe disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Genetic disorders
(26)
Anderson-Warburg syndrome
Allan Herndon syndrome
Atriodigital dysplasia
Seitelberger disease
Del Castillo syndrome
Del Castillo syndrome
Amylo-1,6-- glucosidase deficiency
Ataxia with Lactic Acidosis, Type II
ACADM deficiency
Acral dysostosis with facial and genital abnormalities
Fucosidosis
Galactosialidosis
Aspartylgl- ucosaminuria
Beta-mannosidosis
Sly syndrome
Salla disease
Wolman disease
Farber disease
Scheie syndrome
Angiokeratoma Corporis Diffusum
Mucolipidosis IV
Sandhoff disease
Krabbe disease
Morquio
Hurler syndrome
Pompe disease
Niemann Pick disease
more...
Medical condition
(27)
Androgen insensitivity syndrome partial
Hereditary spherocytic hemolytic anemia
Aniridia cerebellar ataxia mental deficiency
Acidemia isovaleric
Severe mental retardation
Severe mental retardation
Alpha-neuraminidase deficiency
Anderson-Warburg syndrome
Ataxia with Lactic Acidosis, Type II
Acral dysostosis with facial and genital abnormalities
Fucosidosis
Aspartylgl- ucosaminuria
Lysosomal storage diseases
Beta-mannosidosis
Sly syndrome
Salla disease
Wolman disease
Farber disease
Scheie syndrome
Angiokeratoma Corporis Diffusum
Mucolipidosis IV
Sandhoff disease
Neuronal Ceroid Lipofuscinoses
Krabbe disease
Morquio
Fibrodysplasia ossificans progressiva
Hurler syndrome
Pompe disease
more...
See also
(19)
Diseases and disorders
NAGA (gene)
Alpha-N-ac- etylgalactosaminidase
Agnosia, primary visual
Santavuori disease
Santavuori disease
Cronkhite-Canada
Absence of corpus callosum
Molecular lesion
Angiokeratomas
Terri Schindler-Schiavo
11572 Schindler
Prosaposin
Maroteaux-Lamy syndrome
Glycosphingolipids
Autosomal recessive
Intellectual impairment
Oscar schindler
Michael Schiavo
Coronary artery disease
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