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Lysosomal Storage Disorder
Lysosomal storage disorder
Overview
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Inborn errors of metabolism
(106)
Aspartylgl- ucosaminuria
Cholesteryl ester storage disease
Fucosidosis
Glycogen storage disease
Inborn error of metabolism
Inborn error of metabolism
Leukodystrophy, globoid cell
Lipid storage disease
Lipid storage disorders
Lysosomal storage diseases
Pompe disease
Schindler disease
Sly syndrome
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
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
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 type I
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
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
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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Lysosomal storage diseases
(39)
Alpha-mannosidosis
Batten disease
Fabry disease
Farber disease
GM1 gangliosidoses
GM1 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher disease
Glycoproteinosis
Hurler syndrome
I-cell disease
Morquio
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Mucopolysa- ccharidosis, type II
Multiple sulfatase deficiency
Niemann Pick disease
Pseudo-Hurler polydystrophy
Salla disease
Sialidosis
Tay Sachs disease
Aspartylgl- ucosaminuria
Canavan disease
Cholesteryl ester storage disease
Cystinosis
GM2 gangliosidoses
Leukodystrophy, globoid cell
Lipid storage disease
Metachromatic leukodystrophy
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pompe disease
Pycnodysostosis
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sly syndrome
Wolman disease
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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
Gangliosidosis
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
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
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Pediatrics
Hyperostosis, cortical, congenital
Purpura, schoenlein-henoch
Inborn errors of metabolism
Inborn error of metabolism
Lipid storage disorders
(14)
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidosis
Gangliosidosis
Gaucher disease
Leukodystrophy, globoid cell
Multiple sulfatase deficiency
Niemann Pick disease
Niemann-Pick disease, type C
Sandhoff disease
Schindler disease
Tay Sachs disease
Wolman disease
more...
Skin conditions resulting from errors in metabolism
(87)
Adrenoleuk- odystrophy
Cerebrotendineous xanthomatosis
Acute intermittent porphyria
Alkaptonuria
Amyloid purpura
Amyloid purpura
Amyloidosis
Apolipoprotein B deficiency
B-mannosidase deficiency
CADASIL syndrome
Calcinosis cutis
Carotenosis
Citrullinemia
Combined hyperlipidemia
Diabetic bulla
Diabetic cheiroarthropathy
Diabetic dermadrome
Diabetic dermopathy
Dystrophic calcinosis cutis
Eruptive xanthoma
Erythropoietic porphyria
Erythropoietic protoporphyria
Fabry disease
Familial apoprotein CII deficiency
Familial dysbetalip- oproteinemia
Familial hypertrigl- yceridemia
Farber disease
Fucosidosis
Gaucher disease
Gout
Gunther disease
Hartnup disease
Hepatoeryt- hropoietic porphyria
Hereditary coproporphyria
Heredofamilial amyloidosis
Hurler syndrome
Hyaluronidase deficiency
Iatrogenic calcinosis cutis
Idiopathic scrotal calcinosis
Lafora disease
Lesch–Nyhan syndrome
Lichen amyloidosis
Limited joint mobility
Lipoprotein lipase deficiency
Macular amyloidosis
Medication-induced hyperlipop- roteinemia
Metastatic calcinosis cutis
Morquio
Mucopolysa- ccharidosis, type II
Myxedema
Necrobiosis lipoidica
Niemann Pick disease
Nodular amyloidosis
Nodular xanthoma
Normolipop- roteinemic xanthomatosis
Ochronosis
Osteoma cutis
Palmar xanthoma
Phenylketonuria
Porphyria
Porphyria cutanea tarda
Primary cutaneous amyloidosis
Primary systemic amyloidosis
Prolidase deficiency
Pseudoporphyria
Secondary cutaneous amyloidosis
Secondary systemic amyloidosis
Sialidosis
Sitosterolemia
Subepidermal calcified nodule
Tangier disease
Transient erythroporphyria of infancy
Traumatic calcinosis cutis
Tuberoeruptive xanthoma
Tumoral calcinosis
Urbach–Wiethe disease
Variegate porphyria
Verruciform xanthoma
Waxy skin
Xanthelasma
Xanthoma
Xanthoma diabeticorum
Xanthoma planum
Xanthoma striatum palmare
Xanthoma tendinosum
Xanthoma tuberosum
Xanthomatosis
Xanthomatous biliary cirrhosis
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Hepatology
Hepatosplenomegaly
Hepatomegaly
Gaucher disease
Pompe disease
Glycogen storage disease
Cholesteryl ester storage disease
Hurler syndrome
Neurological disorders
Hereditary sensory and autonomic neuropathies
Olfaction disorders
Batten disease
Wolman disease
EC 3.2.1
Beta galactosidase
Glucocerebrosidase
Alpha-L-fucosidase
Neuraminidase
Hydrolases
GALNS
Alpha-L iduronidase
N-acetylga- lactosamine-6-sulfatase
Iduronate sulfatase
Beta galactosidase
Glucocerebrosidase
Alpha-L-fucosidase
Enzymes
Enzyme
Galactosidase
Sulfatase
N-acetylgl- ucosamine-1-phosphotransferase
Beta galactosidase
Genetics
Genetic disorders
Mutation
Genetic disorder
Gene
Diseases and disorders
(60)
Alpha b lysosomal mannosidosis
Mannosidosis alpha b lysosomal
Sphingolipidosis
Sea-blue histiocyte syndrome
Cherry red spot myoclonus syndrome
Cherry red spot myoclonus syndrome
Glossopharyngeal nerve diseases
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Physiologic nystagmus
Histiocytosis non-langerhans-cell
Maroteaux-Lamy syndrome
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Intervertebral disk displacement
Neuronopathic gaucher disease
Danon disease
Rosenthal syndrome
Mucopolysa- ccharidosis
Fabry disease
Gaucher disease
Pompe disease
Lysosomal storage diseases
Niemann Pick disease
Glycogen storage disease
Batten disease
Tay Sachs disease
Inborn error of metabolism
Beta-mannosidosis
Salla disease
Fucosidosis
Mucolipidosis
Schindler disease
Lipid storage disease
Cerebrotendineous xanthomatosis
Cholesteryl ester storage disease
Mucolipidosis type IV
Morquio
Glycoproteinosis
Sialidosis
Hyperostosis, cortical, congenital
Hurler syndrome
Multiple sulfatase deficiency
Lupus erythematosus, cutaneous
Aspartylgl- ucosaminuria
Purpura, schoenlein-henoch
GM1 gangliosidoses
Hereditary sensory and autonomic neuropathies
Leukodystrophy, globoid cell
Splenomegaly
Fetofetal transfusion
Gangliosidosis
Wolman disease
Polyendocr- inopathies, autoimmune
Olfaction disorders
Jansky-bielschowsky disease
Mucopolysa- ccharidosis, type II
Sly syndrome
Galactosialidosis
Farber disease
more...
See also
(20)
Enzyme replacement therapy
Lysosome
Glycosaminoglycans
Mucopolysaccharide
Autosomal recessive
Autosomal recessive
Ashkenazi Jewish
Niemann-Pick disease, SMPD1-associated
Beta-mannosidosis
Heparan sulfate
Cerezyme
Tay-sachs disease, ab variant
BioMarin
Missense mutations
Globotriao- sylceramide
Allopregnanolone
Lupus erythematosus, cutaneous
Coarse facial features
Glucocerebroside
Angiokeratomas
Splenomegaly
more...
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