Kosmix
One sec... we're building your guide for
Pompe Disease
Pompe disease
Overview
Main ›
Genetic Information ›
From Experts ›
Patient Experiences ›
Video ›
Images ›
News & Blogs ›
Guides & Articles ›
Reference ›
Health Providers & Organizations ›
Related in the Kosmos
?
Lysosomal storage diseases
(39)
Fabry disease
Gaucher disease
Hunter syndrome
Lysosomal storage disorders
MPS II
MPS II
Niemann Pick disease
Salla disease
Schindler disease
Sly syndrome
Tay Sachs disease
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Glycoproteinosis
Hurler syndrome
I-cell disease
Krabbe disease
Lipid storage disorder
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
Pycnodysostosis
Sandhoff disease
Sanfilippo syndrome
Sialidosis
Wolman disease
more...
Inborn errors of metabolism
(106)
GSD type I
GSD type III
GSD type V
Galactosemia
Glycogen storage disease
Glycogen storage disease
Inborn error of metabolism
Lipid storage disorders
Phenylketonuria
Propionic acidemia
Pyruvate carboxylase deficiency
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
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
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
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
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
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
Primary carnitine deficiency
Prolidase 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...
Autosomal recessive disorders
(13)
Glycogen storage disease type vii
Gaucher disease
Niemann Pick disease
GSD type III
GSD type V
GSD type V
GSD type I
Tay Sachs disease
Propionic acidemia
Pyruvate carboxylase deficiency
Sly syndrome
Salla disease
MPS II
Phenylketonuria
more...
Hepatology
(8)
Glycogen
GSD type IV
Glycogen synthase deficiency
Hepatomegaly
Glycogen storage disease
Glycogen storage disease
Gaucher disease
GSD type III
GSD type I
more...
Rare diseases
(12)
Arthrogryposis
Popliteal pterygium syndrome
Angelman syndrome
Progeria
Fabry disease
Fabry disease
Gaucher disease
Niemann Pick disease
Tay Sachs disease
Propionic acidemia
Schindler disease
Sly syndrome
Salla disease
more...
Genetic disorders
(31)
Genetic disorder
Porphyria cutanea tarda
Apert syndrome
Pallister-Hall syndrome
Muscular dystrophies
Muscular dystrophies
Duchenne muscular dystrophy
Prader Willi syndrome
Spinal muscular atrophy
Central core disease
Aicardi syndrome
Fabry disease
Gaucher disease
Niemann Pick disease
GSD type III
GSD type V
GSD type IV
GSD type I
Tay Sachs disease
Propionic acidemia
Schindler disease
Pyruvate carboxylase deficiency
Sly syndrome
Popliteal pterygium syndrome
Angelman syndrome
Glycogen storage disease type vii
Salla disease
Galactosemia
MPS II
Hunter syndrome
Phenylketonuria
Progeria
more...
Medical condition
(36)
Polyglucosan body disease adult
Glycogen storage disease type 2
Cardiomegaly
Myopathies
Progressive osseous heteroplasia
Progressive osseous heteroplasia
Dystrophinopathy
Cardiomyopathy
Hypertrophic cardiomyopathy
Aniridia
Glycogen storage disease
Fabry disease
Gaucher disease
GSD type IV
Porphyria cutanea tarda
Arthrogryposis
Tay Sachs disease
Inborn error of metabolism
Apert syndrome
Schindler disease
Pyruvate carboxylase deficiency
Pallister-Hall syndrome
Sly syndrome
Popliteal pterygium syndrome
Angelman syndrome
Glycogen storage disease type vii
Salla disease
Muscular dystrophies
Duchenne muscular dystrophy
Galactosemia
MPS II
Prader Willi syndrome
Spinal muscular atrophy
Central core disease
Hunter syndrome
Phenylketonuria
Progeria
more...
Carbohydrates
Glucosidase
Glycolysis
Monosaccharide
Glycogen
EC 3.2.1
Acid maltase
Glucocerebrosidase
Glucosidase
Metabolic disorders
(59)
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 synthase deficiency
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
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...
Muscular disorders
(23)
Arthrogryposis
Central core disease
Centronuclear myopathy
Chronic progressive external ophthalmoplegia
Congenital myopathy
Congenital myopathy
Diastasis recti
Inclusion body myositis
Laminopathy
Macrophagic myofasciitis
Metabolic myopathy
Mitochondrial myopathy
Muscular dystrophies
Myokmia
Myopathies
Nemaline myopathy
Orofacial myological disorders
Pelvic Floor Muscle Disorder
Polymyositis
Thyrotoxic myopathy
Torticollis
Writer's cramp
X-linked myotubular myopathy
Zenker's degeneration
more...
Muscular system
Muscle Disease
Muscle biopsy
Muscle weakness
Skeletal muscles
Medical treatments
Enzyme replacement therapy
Myozyme
Therapeutics
Biosurgery
See also
(20)
Diseases and disorders
Acid alpha-glucosidase
Orphan drugs
Genzyme
Lysosome
Lysosome
Pharmacological chaperone
Cerezyme
John Crowley
Missense mutations
Type VII
Glucose 6-phosphatase
Phase 2 clinical trial
Myophosphorylase
Hers' Disease
Gierke
Glycogen debranching enzyme
Susannah Lattin
Glivec
Vacuolar
Campath
more...
more categories...
Health Providers & Organizations
›
Vitals.com
