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Gaucher Disease
Gaucher disease
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Lipid storage disorders
(13)
Fabry disease
Krabbe disease
Niemann Pick disease
Tay Sachs disease
Farber disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidosis
Multiple sulfatase deficiency
Niemann-Pick disease, type C
Sandhoff disease
Schindler disease
Wolman disease
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Metabolic disorders
(59)
Inborn errors of metabolism
Neuronal ceroid lipofuscinosis
Urea cycle disorders
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
Galactosemia
Galactosemic cataract
Gangliosidosis
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
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
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
Winchester syndrome
Wolman disease
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Skin conditions resulting from errors in metabolism
(86)
Adrenoleuk- odystrophy
Cadasil
Cerebrotendineous xanthomatosis
Gargoylism
Hunter syndrome
Hunter syndrome
Lesch-nyhan syndrome
Acute intermittent porphyria
Alkaptonuria
Amyloid purpura
Amyloidosis
Apolipoprotein B deficiency
B-mannosidase deficiency
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
Gout
Gunther disease
Hartnup disease
Hepatoeryt- hropoietic porphyria
Hereditary coproporphyria
Heredofamilial amyloidosis
Hyaluronidase deficiency
Iatrogenic calcinosis cutis
Idiopathic scrotal calcinosis
Lafora disease
Lichen amyloidosis
Limited joint mobility
Lipoprotein lipase deficiency
Macular amyloidosis
Medication-induced hyperlipop- roteinemia
Metastatic calcinosis cutis
Morquio syndrome
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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Ashkenazi Jews topics
Ashkenazi Jewish
Canavan disease
Bloom syndrome
Familial dysautonomia
Fanconi anemia
Niemann Pick disease
Tay Sachs disease
Rare diseases
(15)
Pompe disease
Metachromatic leukodystrophy
Alexander disease
Lipoidosis
Sly syndrome
Sly syndrome
Galactosialidosis
Maple syrup urine disease
Osteopetrosis
Fabry disease
Niemann Pick disease
Tay Sachs disease
Krabbe disease
Bloom syndrome
Neuronal ceroid lipofuscinosis
Lesch-nyhan syndrome
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Hepatology
Hepatosplenomegaly
Gilberts syndrome
Glycogen storage disease
Enlarged liver
Pompe disease
Gargoylism
Lysosomal storage diseases
(39)
Batten disease
Lysosomal storage disorders
Mucolipidosis II
Mucopolysa- ccharidosis
Alpha-mannosidosis
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gargoylism
Glycoproteinosis
Hunter syndrome
Krabbe disease
Lipoidosis
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pompe disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
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Autosomal recessive disorders
(20)
Galactose-- 1-phosphate uridyl transferase deficiency
Pseudoxanthoma elasticum
Infantile neuroaxonal dystrophy
Pompe disease
Niemann Pick disease
Niemann Pick disease
Tay Sachs disease
Krabbe disease
Gargoylism
Metachromatic leukodystrophy
Canavan disease
Bloom syndrome
Neuronal ceroid lipofuscinosis
Familial dysautonomia
Mucopolysa- ccharidosis
Batten disease
Lipoidosis
Sly syndrome
Maple syrup urine disease
Fanconi anemia
Cerebrotendineous xanthomatosis
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Genetic disorders
(33)
Gilles de la Tourette syndrome
Genetic diseases
Noonan syndrome
Li-fraumeni syndrome
Becker muscular dystrophy
Becker muscular dystrophy
Fabry disease
Pompe disease
Niemann Pick disease
Tay Sachs disease
Galactose-- 1-phosphate uridyl transferase deficiency
Krabbe disease
Gargoylism
Metachromatic leukodystrophy
Canavan disease
Bloom syndrome
Gilberts syndrome
Hunter syndrome
Alexander disease
Mucopolysa- ccharidosis
Batten disease
Lipoidosis
Sly syndrome
Galactosialidosis
Maple syrup urine disease
Lesch-nyhan syndrome
Pseudoxanthoma elasticum
Infantile neuroaxonal dystrophy
Cadasil
Adrenoleuk- odystrophy
Osteopetrosis
Urea cycle disorders
Fanconi anemia
Cerebrotendineous xanthomatosis
more...
Diseases and disorders
(52)
Neuronopathic gaucher disease
Pseudo-gaucher disease
Gaucher-like disease
CMV disease
Gangrenous stomatitis
Gangrenous stomatitis
Gianotti-crosti syndrome
Histiocytosis
Enlarged spleen
Acute biphenotypic leukemia
Myelofibrosis
Glossopharyngeal nerve diseases
Reticular dysgenesis
Thesaurismosis
Bone disease
Chronic myeloid leukaemia
Histiocytosis non-langerhans-cell
X-linked mental retardation
Thrombocytopenia
Gilles de la Tourette syndrome
Fabry disease
Lysosomal storage diseases
Pompe disease
Niemann Pick disease
Tay Sachs disease
Galactose-- 1-phosphate uridyl transferase deficiency
Krabbe disease
Gargoylism
Metachromatic leukodystrophy
Canavan disease
Bloom syndrome
Gilberts syndrome
Neuronal ceroid lipofuscinosis
Hunter syndrome
Alexander disease
Familial dysautonomia
Mucopolysa- ccharidosis
Batten disease
Lipoidosis
Sly syndrome
Galactosialidosis
Maple syrup urine disease
Glycogen storage disease
Noonan syndrome
Lesch-nyhan syndrome
Pseudoxanthoma elasticum
Li-fraumeni syndrome
Cadasil
Osteopetrosis
Becker muscular dystrophy
Urea cycle disorders
Fanconi anemia
Cerebrotendineous xanthomatosis
more...
EC 3.2.1
Glucocerebrosidase
Glucosylceramidase
Beta-glucosidase
Glucosidase
Inborn errors of metabolism
(107)
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
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 uridyl transferase deficiency
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease
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
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch-nyhan syndrome
Lipid storage disorders
Lipoidosis
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage diseases
Lysosomal storage disorders
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
Pompe disease
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
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 disorders
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Symptoms
General ill feeling
Generalized tonic clonic seizure
Swelling
Opisthotonos
Enlarged spleen
See also
(20)
Cerezyme
Glucocerebroside
Enzyme replacement therapy
Gastric outlet obstruction
Gastrointestinal perforation
Gastrointestinal perforation
Gingivectomy
Gene amplification
Gastrostomy tube
Lysosomal
Zavesca
Genetic code (ATGC)
Glucosyl
Autosomal recessive
Nerve growth factor
Genetic imprinting
General paresis
Gingival
Glycosphingolipids
Pharmacological chaperone
Genzyme
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