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Krabbe Disease
Krabbe disease
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Related in the Kosmos
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Lipid storage disorders
(13)
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gaucher disease
Gaucher disease
Multiple sulfatase deficiency
Niemann Pick disease
Schindler disease
Tay Sachs disease
Wolman disease
Fabry disease
Niemann-Pick disease, type C
Sandhoff disease
more...
Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Metachromatic leukodystrophy
Pelizaeus-- Merzbacher disease
Zellweger syndrome
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
Gangliosidoses
Gaucher disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
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...
Inborn errors of metabolism
(106)
Cholesteryl ester storage disease
Infantile Refsum disease
Ketotic glycinemia
Lysosomal storage diseases
Menkes syndrome
Menkes syndrome
Pompe disease
Sly syndrome
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
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
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
Lipid storage disorder
Lipid storage disorders
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
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
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Rotor syndrome
Sarcosinemia
Schindler disease
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
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(18)
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
Batten disease
Kugelberg-Welander syndrome
Transgradiens of siemens
Transgradiens of siemens
Mucopolysa- ccharidosis
Gaucher disease
Metachromatic leukodystrophy
Multiple sulfatase deficiency
Ketotic glycinemia
Niemann Pick disease
Sly syndrome
Pompe disease
Gangliosidoses
Tay Sachs disease
Farber disease
Wolman disease
Canavan disease
more...
Lysosomal storage diseases
(39)
Mucolipidosis II
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher disease
Glycoproteinosis
Hunter syndrome
Hurler syndrome
Lipid storage disorder
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
Pompe disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Rare diseases
(22)
Klippel Trenaunay syndrome
Keratolytic winter erythema
Karsch Neugebauer syndrome
Tay-sachs disease, ab variant
Gaucher disease
Gaucher disease
GM1 gangliosidoses
Metachromatic leukodystrophy
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Ketotic glycinemia
GM2 gangliosidoses
Niemann Pick disease
Sly syndrome
Pompe disease
Transgradiens of siemens
Gangliosidoses
Tay Sachs disease
Alexander disease
Farber disease
Schindler disease
Wolman disease
Menkes syndrome
more...
Genetic disorders
(34)
Polycystic kidney
Klinefelters syndrome
Niemann-Pick disease, SMPD1-associated
Jansky-bielschowsky disease
Hyperostosis, cortical, congenital
Hyperostosis, cortical, congenital
Kniest chondrodystrophy
Hereditary sensory and autonomic neuropathies
Refractory anemia with ringed sideroblasts
Adrenoleuk- odystrophy
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
Gaucher disease
Batten disease
GM1 gangliosidoses
Metachromatic leukodystrophy
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Ketotic glycinemia
GM2 gangliosidoses
Niemann Pick disease
Leukodystrophies
Sly syndrome
Keratolytic winter erythema
Pompe disease
Kugelberg-Welander syndrome
Gangliosidoses
Tay Sachs disease
Alexander disease
Farber disease
Schindler disease
Wolman disease
Karsch Neugebauer syndrome
Canavan disease
Mucopolysa- ccharidosis
more...
Diseases and disorders
(76)
Sicca
Katayama fever
Klumpke paralysis
Leukodystrophy
Kufs disease
Kufs disease
Keratosis seborrheic
Kidney failure, acute
Keratitis
Kaposis Sarcoma
Koilonychia
Kidney failure, chronic
Sea-blue histiocyte syndrome
Reticular dysgenesis
Acute biphenotypic leukemia
Lymphohistiocytosis
Sphingolipidoses
Kernicterus
Galactosyl- ceramidase deficiency disease
Kohler disease
Glossopharyngeal nerve diseases
Myelofibrosis
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Kahler disease
Progressive sclerosing poliodystrophy
Hypotonia
Enterocolitis, pseudomembranous
Physiologic nystagmus
Fetofetal transfusion
Histiocytosis non-langerhans-cell
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Kaposi disease
Keratin cyst
Arnold-Chiari syndrome
Keratosis
Intervertebral disk displacement
Rosenthal syndrome
Klinefelters syndrome
Cerebrotendineous xanthomatosis
Gaucher disease
Batten disease
GM1 gangliosidoses
Klippel Trenaunay syndrome
Jansky-bielschowsky disease
Metachromatic leukodystrophy
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Metabolic disorders
GM2 gangliosidoses
Niemann Pick disease
Lysosomal storage diseases
Sly syndrome
Keratolytic winter erythema
Pompe disease
Kugelberg-Welander syndrome
Transgradiens of siemens
Gangliosidoses
Hyperostosis, cortical, congenital
Tay Sachs disease
Kniest chondrodystrophy
Alexander disease
Farber disease
Schindler disease
Wolman disease
Hereditary sensory and autonomic neuropathies
Karsch Neugebauer syndrome
Canavan disease
Refractory anemia with ringed sideroblasts
Infantile Refsum disease
Mucopolysa- ccharidosis
Menkes syndrome
more...
Symptoms
Decerebrate posturing
Failure to thrive
Seizure
Hypotonia
Signs and tests
CSF albumin
MRI of the head
Nerve conduction study
Retina
Abnormal posturing
See also
(20)
Knock knees
Lateral collateral ligament
Medial collateral ligament, knee
Kimmelstiel-Wilson disease
Korsakoff psychosis
Korsakoff psychosis
Interstitial keratitis
Galactosyl- ceramidase
Meniscus (knee)
Glycolipid
Kidney tumor
Sphingolipids
Galactocerebroside
Beta galactosidase
Myelin
People of Scandinavian descent
Refractory anemia with excess blasts in transformation
Galactosidase
Cerebral atrophy
Keratolysis exfoliativa
Karyotyping
more...
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