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Wolman Disease
Wolman disease
Overview
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Lipid storage disorders
(13)
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gangliosidoses
Leukodystrophy, globoid cell
Multiple sulfatase deficiency
Niemann Pick disease
Sandhoff disease
Schindler disease
Gaucher's disease
Niemann-Pick disease, type C
Tay-Sachs disease
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Metabolic disorders
(59)
Galactosemias
Inborn errors of metabolism
Neuronal ceroid lipofuscinosis
Activated protein C resistance
Adenosine deaminase deficiency
Adenosine deaminase deficiency
Albinism
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
Galactosemic cataract
Gangliosidoses
Gaucher's disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Ketotic hypoglycemia
Lactose intolerance
Leukodystrophy, globoid cell
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Niemann Pick disease
Niemann-Pick disease, type C
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
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Inborn errors of metabolism
(106)
Acid lipase deficiency
Aspartylgl- ucosaminuria
Cholesteryl ester storage disease
Fucosidosis
Lipid storage disease
Lipid storage disease
Lysosomal storage diseases
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
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
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
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 disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
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
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
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
X-linked ichthyosis
Zellweger syndrome
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Neurological disorders
Hereditary sensory and autonomic neuropathies
Olfaction disorders
Batten disease
Ataxia
Wilson disease
Neuronal ceroid lipofuscinosis
Lysosomal storage diseases
(39)
Alpha-mannosidosis
Hurler-Scheie Syndrome
Metachromatic leukodystrophy
Mucolipidosis I
Mucolipidosis II
Mucolipidosis II
Sanfilippo syndrome
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher's disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Leukodystrophy, globoid cell
Lipid storage disease
Lysosomal storage disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Schindler disease
Sly syndrome
Tay-Sachs disease
more...
Autosomal recessive disorders
(23)
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
Glanzmann thrombasthenia
Werdnig-Hoffman disease
Abetalipop- roteinemia
Abetalipop- roteinemia
Werner syndrome
Multiple sulfatase deficiency
Farber disease
Gangliosidoses
Leukodystrophy, globoid cell
Sly syndrome
Aspartylgl- ucosaminuria
Alpha-mannosidosis
Lipid storage disease
Batten disease
Sandhoff disease
Metachromatic leukodystrophy
Hurler-Scheie Syndrome
Niemann Pick disease
Fucosidosis
Neuronal ceroid lipofuscinosis
Wilson disease
Sanfilippo syndrome
more...
Rare diseases
(26)
Williams syndrome
Alexander disease
Wiskott-aldrich syndrome
Cholesteryl ester storage disease
Tay-sachs disease, ab variant
Tay-sachs disease, ab variant
GM1 gangliosidoses
GM2 gangliosidoses
Multiple sulfatase deficiency
Farber disease
Gangliosidoses
Leukodystrophy, globoid cell
Sly syndrome
Aspartylgl- ucosaminuria
Alpha-mannosidosis
Fabry's disease
Lipid storage disease
Schindler disease
Sandhoff disease
Metachromatic leukodystrophy
Niemann Pick disease
Fucosidosis
Glanzmann thrombasthenia
Neuronal ceroid lipofuscinosis
Wilson disease
Werner syndrome
Sanfilippo syndrome
more...
Genetic disorders
(39)
Niemann-Pick disease, SMPD1-associated
Jansky-bielschowsky disease
Hyperostosis, cortical, congenital
Adrenoleuk- odystrophy
Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts
Weill-Marchesani syndrome
Wagr syndrome
Waardenburg syndrome
Cerebrotendineous xanthomatosis
Cholesteryl ester storage disease
Tay-sachs disease, ab variant
GM1 gangliosidoses
GM2 gangliosidoses
Multiple sulfatase deficiency
Farber disease
Gangliosidoses
Leukodystrophy, globoid cell
Sly syndrome
Aspartylgl- ucosaminuria
Hereditary sensory and autonomic neuropathies
Fabry's disease
Lipid storage disease
Galactosemias
Schindler disease
Batten disease
Sandhoff disease
Metachromatic leukodystrophy
Hurler-Scheie Syndrome
Niemann Pick disease
Fucosidosis
Williams syndrome
Glanzmann thrombasthenia
Werdnig-Hoffman disease
Alexander disease
Abetalipop- roteinemia
Wiskott-aldrich syndrome
Wilson disease
Werner syndrome
Sanfilippo syndrome
more...
Diseases and disorders
(68)
Sea-blue histiocyte syndrome
Reticular dysgenesis
Familial xanthomatosis
Acute biphenotypic leukemia
Lymphohistiocytosis
Lymphohistiocytosis
Glossopharyngeal nerve diseases
Lupus erythematosus, cutaneous
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Physiologic nystagmus
Fetofetal transfusion
Histiocytosis non-langerhans-cell
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Sphingolipidoses
Intervertebral disk displacement
Rosenthal syndrome
Splenomegaly
Leukemia
Brachial plexus neuropathies
Optic neuropathy, ischemic
Maroteaux-Lamy syndrome
Myelofibrosis
Fatty acid oxidation disorders
Weaver syndrome
Jaundice
Cerebrotendineous xanthomatosis
Cholesteryl ester storage disease
GM1 gangliosidoses
Jansky-bielschowsky disease
GM2 gangliosidoses
Multiple sulfatase deficiency
Farber disease
Gangliosidoses
Leukodystrophy, globoid cell
Sly syndrome
Hyperostosis, cortical, congenital
Lysosomal storage diseases
Aspartylgl- ucosaminuria
Hereditary sensory and autonomic neuropathies
Refractory anemia with ringed sideroblasts
Olfaction disorders
Fabry's disease
Lipid storage disease
Galactosemias
Schindler disease
Batten disease
Sandhoff disease
Metachromatic leukodystrophy
Mucolipidosis I
Hurler-Scheie Syndrome
Niemann Pick disease
Fucosidosis
Glanzmann thrombasthenia
Wagr syndrome
Ataxia
Werdnig-Hoffman disease
Alexander disease
Neuronal ceroid lipofuscinosis
Abetalipop- roteinemia
Wiskott-aldrich syndrome
Wilson disease
Waardenburg syndrome
Werner syndrome
Sanfilippo syndrome
more...
Hepatology
Enlarged liver
Hepatosplenomegaly
Cholesteryl ester storage disease
Hurler-Scheie Syndrome
Jaundice
Wilson disease
Hydrolases
Endothelial lipase
Human pancreatic lipase
Beta-hexosaminidase A
Arylsulfatase A
Hydrolase
Lipoprotein lipase
See also
(20)
Acid lipase
Lysosomal
Refractory anemia with excess blasts in transformation
Glycolipid
Juvenile Myelomonocytic Leukemia (JMML)
Juvenile Myelomonocytic Leukemia (JMML)
Sphingolipids
Angiokeratomas
Autosomal recessive
Hepatic lipase
Water-electrolyte imbalance
Ceramide
Lipids
GM2 (ganglioside)
Cord blood bank
Allogeneic
Umbilical cord blood
Max Wilms
Symptoms and signs
Phospholipases
Adrenal glands
more...
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