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Lipid Storage Disease
Lipid storage disease
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Inborn errors of metabolism
(106)
Acid lipase deficiency
Cholesteryl ester storage disease
Glycogen storage disease
Glycogen storage disease type iib
Heredopathia atactica polyneuritiformis
Heredopathia atactica polyneuritiformis
Krabbe disease
Lipid storage disorders
Lysosomal storage diseases
N-acetylglutamate synthase deficiency
SCAD deficiency
Storage disease
VLCAD deficiency
Von Gierke's disease
Wolman disease
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
Aspartylgl- ucosaminuria
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
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
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
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
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
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
Rotor syndrome
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
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(18)
Niemann Pick disease
Gaucher disease
Tay Sachs disease
Cerebrotendineous xanthomatosis
Batten disease
Batten disease
Tay-sachs disease, ab variant
Sandhoff disease
Gangliosidoses
Multiple sulfatase deficiency
Farber disease
Mucopolysa- ccharidosis
Glycogen storage disease type iib
Krabbe disease
SCAD deficiency
Wolman disease
Von Gierke's disease
N-acetylglutamate synthase deficiency
VLCAD deficiency
more...
Rare diseases
(15)
Fabry disease
GM1 gangliosidoses
GM2 gangliosidoses
Niemann Pick disease
Gaucher disease
Gaucher disease
Tay Sachs disease
Glycogen storage disease type iib
Cholesteryl ester storage disease
Tay-sachs disease, ab variant
Krabbe disease
Sandhoff disease
Gangliosidoses
Multiple sulfatase deficiency
Wolman disease
Farber disease
more...
Lysosomal storage diseases
(39)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher disease
Glycogen storage disease type iib
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lysosomal storage disease
Metachromatic leukodystrophy
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
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Genetic disorders
(35)
Adrenoleuk- odystrophy
Niemann-Pick disease, SMPD1-associated
Alport syndrome
MASA syndrome
Leukodystrophies
Leukodystrophies
Androgen insensitivity syndrome
Jansky-bielschowsky disease
Hyperostosis, cortical, congenital
Luschka-Magendie foramina atresia
Hereditary sensory and autonomic neuropathies
McLeod syndrome
X-linked sideroblastic anemia
Aicardi syndrome
Niemann Pick disease
Gaucher disease
Tay Sachs disease
Glycogen storage disease type iib
Fabry disease
Cerebrotendineous xanthomatosis
Cholesteryl ester storage disease
GM1 gangliosidoses
Batten disease
Tay-sachs disease, ab variant
Krabbe disease
Sandhoff disease
Gangliosidoses
SCAD deficiency
Multiple sulfatase deficiency
Wolman disease
GM2 gangliosidoses
Farber disease
Mucopolysa- ccharidosis
Von Gierke's disease
N-acetylglutamate synthase deficiency
VLCAD deficiency
more...
Diseases and disorders
(57)
Neutral lipid storage disease
Lipid storage myopathy
Ichthyosis
Sea-blue histiocyte syndrome
Histiocytosis
Histiocytosis
Erythroderma
Sphingolipidosis
Histiocytosis non-langerhans-cell
Leukodystrophy
Glossopharyngeal nerve diseases
Myopathy
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Enterocolitis, pseudomembranous
Physiologic nystagmus
Fetofetal transfusion
Lancereaux- -Mathieu-Weil Spirochetosis
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Netherton syndrome ichthyosis
Splenomegaly
Intervertebral disk displacement
Ichthyosis hystrix curth macklin type
Rosenthal syndrome
Distal Arthrogryposis, Type IIA
Neuronopathic gaucher disease
Niemann Pick disease
Gaucher disease
Tay Sachs disease
Glycogen storage disease type iib
Fabry disease
Cerebrotendineous xanthomatosis
Cholesteryl ester storage disease
Glycogen storage disease
GM1 gangliosidoses
Batten disease
Storage disease
Alport syndrome
MASA syndrome
Krabbe disease
Sandhoff disease
Gangliosidoses
Androgen insensitivity syndrome
Multiple sulfatase deficiency
Wolman disease
Lysosomal storage diseases
Heredopathia atactica polyneuritiformis
Jansky-bielschowsky disease
GM2 gangliosidoses
Hyperostosis, cortical, congenital
Farber disease
Hereditary sensory and autonomic neuropathies
Mucopolysa- ccharidosis
X-linked sideroblastic anemia
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
Galactosemia
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
Krabbe disease
Lactose intolerance
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
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
Wolman disease
more...
Lipids
(73)
Ceramide
Ganglioside
Glycolipid
Lipid
Lipid a
Lipid a
Lipid disorders
Lipoproteins
Phospholipids
Sphingolipids
2-Arachidonyl glyceryl ether
Acid value
Adipocere
Biolipid
CDw17 antigen
Caldarchaeol
Cerebroside
Diglyceride
Dihomo-gam- ma-linolenic acid
Docosanoids
Eicosanoids
Ethylhexyl palmitate
Fatty acids
Fatty alcohol
GD2
GM1
Galactocerebroside
Globoside
Glucocerebroside
Glyceride
Glycerolysis
Glyceryl laurate
Glycosphingolipid
Interesterified fat
Intralipid
Isopropyl palmitate
Lactosylceramide
Lipid polymorphism
Lipid raft
Lipid rescue
Lipidome
Lipidomics
Lipoprotein
Lipoprotein-X
Lorenzo's oil
Lysochrome
Lysophosph- atidylcholine
Membrane fluidity
Membrane lipids
Monoglyceride
Monounsaturated fat
N-Acylethanolamine
Oleamide
Oleochemical
Omega-3 fatty acid
Oxylipin
Palmitate
Palmitoylcarnitine
Palmitoyle- thanolamide
Polyunsaturated fat
Resolvins
Saponifiable lipid
Saturated fat
Simple lipid
Spherosome
Sphingosine kinase
Sphingosin- e-1-phosphate
Steroids
Sulfolipid
Sulfoquinovosyl diacylglycerol
Trans fat
Triglycerides
Unsaturated fat
gamma-Linolenic acid
more...
Membrane biology
Sphingomyelin
Biological membranes
Lipid bilayer
Glyceropho- spholipids
Phospholipids
See also
(20)
Enzyme replacement therapy
Hepatosplenomegaly
Hyper IgM Syndrome Type 1
Abnormal vaginal bleeding
X-linked recessive
X-linked recessive
Lysosomal
X linked
Lipoprotein lipase
Autosomal recessive
Acid lipase
Glucocerebrosidase
Miglustat
Cornification
Enlarged liver
Ludwig Pick
PNPLA2
Beta-hexosaminidase B
Enzyme
Erythrokeratodermia variabilis
Chylomicrons
more...
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