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Fabry Disease
Fabry disease
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Lipid storage disorders
(13)
GM1 gangliosidoses
Gangliosidoses gm2
Gaucher disease
Leukodystrophy, globoid cell
Multiple sulfatase deficiency
Multiple sulfatase deficiency
Niemann Pick disease
Schindler disease
Tay Sachs disease
Farber disease
Gangliosidosis
Niemann-Pick disease, type C
Sandhoff disease
Wolman disease
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Skin conditions resulting from errors in metabolism
(86)
Adrenoleuk- odystrophy
Cadasil
Cerebrotendineous xanthomatosis
Fucosidosis
Hunter syndrome
Hunter syndrome
Hurler 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
Familial apoprotein CII deficiency
Familial dysbetalip- oproteinemia
Familial hypertrigl- yceridemia
Farber disease
Gaucher disease
Gout
Gunther disease
Hartnup disease
Hepatoeryt- hropoietic porphyria
Hereditary coproporphyria
Heredofamilial amyloidosis
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 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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Rare diseases
(15)
Pompe disease
Lipidosis
Tay-sachs disease, ab variant
Alexander disease
Neonatal screening
Neonatal screening
Beta-mannosidosis
Gaucher disease
Niemann Pick disease
Leukodystrophy, globoid cell
Gangliosidoses gm2
Fucosidosis
Tay Sachs disease
GM1 gangliosidoses
Schindler disease
Multiple sulfatase deficiency
more...
Lysosomal storage diseases
(39)
Batten disease
Cystinosis
Lysosomal storage disorders
MPS I
Alpha-mannosidosis
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Cholesteryl ester storage disease
Farber disease
GM1 gangliosidoses
Galactosialidosis
Gangliosidoses gm2
Gangliosidosis
Gaucher disease
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Leukodystrophy, globoid cell
Lipidosis
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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Genetic disorders
(43)
Familial mediterranean fever
Niemann-Pick disease, SMPD1-associated
Female pseudo-Turner syndrome
Faciocutan- eoskeletal syndrome
Alport syndrome
Alport syndrome
X-linked sideroblastic anemia
Abetalipop- roteinemia
22q11.2 deletion syndrome
Familial adenomatous polyposis
Galactosemias
Fg syndrome
Alpha Thalassemia
Jansky-bielschowsky disease
Inherited disease
Acrodermatitis enteropathica
Fukuyama congenital muscular dystrophy
MASA syndrome
Friedreich ataxia
Nephronophthisis
Fanconi anemia
Erythromelalgia
Pompe disease
Gaucher disease
Lipidosis
Hunter syndrome
Cerebrotendineous xanthomatosis
Niemann Pick disease
Adrenoleuk- odystrophy
MPS I
Batten disease
Tay-sachs disease, ab variant
Leukodystrophy, globoid cell
Gangliosidoses gm2
Fucosidosis
Cadasil
Hurler syndrome
Tay Sachs disease
GM1 gangliosidoses
Cystinosis
Schindler disease
Alexander disease
Multiple sulfatase deficiency
Beta-mannosidosis
more...
Diseases and disorders
(58)
Familial dysautonomia
Factor V Leiden thrombophilia
Lupus erythematosus, cutaneous
Anemia, hemolytic
Hypohidrosis
Hypohidrosis
Fumarylacetoacetase deficiency disease
Sea-blue histiocyte syndrome
Fatty oxidation disorder
Cerebral amyloid angiopathy
Glycogen storage disease
Dysostosis
Floating harbor syndrome
Hypertrophic cardiomyopathy
Fetal aids infection
Aniridia
Left ventricular hypertrophy
Physiologic nystagmus
Palindromic rheumatism
Gouty nephropathy familial
Pompe disease
Gaucher disease
Lipidosis
Lysosomal storage diseases
Hunter syndrome
Cerebrotendineous xanthomatosis
Niemann Pick disease
MPS I
Batten disease
Familial mediterranean fever
Female pseudo-Turner syndrome
Leukodystrophy, globoid cell
Gangliosidoses gm2
Fucosidosis
Cadasil
Faciocutan- eoskeletal syndrome
Hurler syndrome
Tay Sachs disease
GM1 gangliosidoses
Alport syndrome
X-linked sideroblastic anemia
Abetalipop- roteinemia
22q11.2 deletion syndrome
Rare diseases
Cystinosis
Familial adenomatous polyposis
Schindler disease
Alexander disease
Galactosemias
Multiple sulfatase deficiency
Alpha Thalassemia
Jansky-bielschowsky disease
Acrodermatitis enteropathica
Fukuyama congenital muscular dystrophy
MASA syndrome
Friedreich ataxia
Fanconi anemia
Erythromelalgia
Beta-mannosidosis
more...
Metabolic disorders
(60)
Inborn errors of metabolism
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
Galactosemias
Galactosemic cataract
Gangliosidoses gm2
Gangliosidosis
Gaucher 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
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...
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 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 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
Lipidosis
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
Neonatal 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 disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Lipids
Glycosphingolipids
Glycolipid
Glucocerebroside
Sphingolipids
Inborn error of metabolism
(76)
Glucose-6-phosphate dehydrogenase deficiency
Inborn errors of amino acid metabolism
Inborn errors of purine-pyrimidine metabolism
Oculocerebrorenal syndrome
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency
2-Hydroxyglutaric aciduria
Abscess of thymus
Acute infectious thyroiditis
Adiposogenital dystrophy
Adrenalitis
Adrenocortical hyperfunction
Adrenocorticotropic hormone deficiency
Albright's hereditary osteodystrophy
Aldolase A deficiency
Amyloid degeneration
Autoimmune adrenalitis
Autoimmune thyroiditis
Biotin deficiency
De Quervain's thyroiditis
Diabetes complication
Diabetes mellitus and deafness
Diabetic amyotrophy
Endocrine bone disease
Endocrine paraneoplastic syndrome
Enolase deficiency
Essential fructosuria
Fatty oxidation disorder
Finnish type amyloidosis
Glucocorticoid deficiency 1
Glycogen storage disease type 0
Glycogen storage disease type IV
Glycogen storage disease type VI
Glycogen storage disease type XI
Glycoproteinosis
Histidinemia
Hunter syndrome
Hyperinsulinemia
Hyperpituitarism
Hypoestrogenism
Hypophysitis
Hypothalamic disease
Idiopathic hypoglycemia
Impaired fasting glycaemia
Juvenile diabetes mellitus
Keshan disease
Lesch–Nyhan syndrome
MODY 1
MODY 2
MODY 3
MODY 4
MODY 5
MODY 6
Menkes disease
Methylmalonyl-CoA mutase deficiency
Ochronosis
Ornithine transcarbamylase deficiency
Parathyroiditis
Pentosuria
Permanent neonatal diabetes mellitus
Piebaldism
Pituitary ACTH hypersecretion
Pituitary disease
Postpartum thyroiditis
Pseudohypo- aldosteronism
Pseudohypo- parathyroidism
Sheehan's syndrome
Sphincter of Oddi dysfunction
Subacute thyroiditis
Tertiary hyperparathyroidism
Testicular disease
Thymic hypoplasia
Thyroid dyshormonogenesis
Toxic multinodular goitre
Toxic nodular goitre
Transaldolase deficiency
Vitamin poisoning
more...
See also
(20)
Enzyme replacement therapy
Charles Fabry
Glucocerebrosidase
Globotriao- sylceramide
Angiokeratomas
Angiokeratomas
Genzyme
Enzyme
Galactosidase
Lysosomal
X-linked recessive
Missense mutations
Myozyme
Orphan drugs
Cerezyme
Pharmacological chaperone
Phase 2 clinical trials
Hyper IgM Syndrome Type 1
Hyperchole- sterolaemia
Fanconi
Alpha-galactosidase
more...
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