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Krabbe's Disease
Krabbe's disease
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Lipid storage disorders
(13)
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gangliosidoses
Gaucher disease
Multiple sulfatase deficiency
Sandhoff disease
Schindler disease
Tay Sachs disease
Wolman disease
Niemann-Pick disease, type C
Niemann–Pick disease
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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, type C
Niemann–Pick disease
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
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysosomal storage diseases
Lysosomal storage diseases
Menkes syndrome
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 II
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
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
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Autosomal recessive disorders
(18)
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
Infantile neuroaxonal dystrophy
Batten disease
Spinal muscular atrophy type 1
Spinal muscular atrophy type 1
Hurler-Scheie Syndrome
Multiple sulfatase deficiency
Gaucher disease
Farber disease
Metachromatic leukodystrophy
Gangliosidoses
Sly syndrome
Tay Sachs disease
Wolman disease
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Sandhoff disease
Canavan disease
Ketotic glycinemia
more...
Lysosomal storage diseases
(39)
Galactosialidosis
Mucolipidosis II
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry's disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gaucher disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler-Scheie 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, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Rare diseases
(20)
Klippel Trenaunay Weber syndrome
Tay-sachs disease, ab variant
GM1 gangliosidoses
GM2 gangliosidoses
Multiple sulfatase deficiency
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Gaucher disease
Farber disease
Metachromatic leukodystrophy
Gangliosidoses
Sly syndrome
Alexander disease
Schindler disease
Tay Sachs disease
Wolman disease
Sandhoff disease
Ketotic glycinemia
Galactosialidosis
Menkes syndrome
Fabry's disease
more...
Genetic disorders
(37)
Polycystic kidney
Klinefelters syndrome
Niemann-Pick disease, SMPD1-associated
Jansky-bielschowsky disease
Kniest dysplasia
Kniest dysplasia
Refractory anemia with ringed sideroblasts
Klein-Waardenburg syndrome
Spondyloep- imetaphyseal dysplasia, Strudwick type
Aicardi syndrome
Cerebrotendineous xanthomatosis
Tay-sachs disease, ab variant
GM1 gangliosidoses
GM2 gangliosidoses
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Gaucher disease
Farber disease
Metachromatic leukodystrophy
Gangliosidoses
Sly syndrome
Alexander disease
Schindler disease
Adrenoleuk- odystrophy
Tay Sachs disease
Wolman disease
Leukodystrophies
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Sandhoff disease
Infantile neuroaxonal dystrophy
Canavan disease
Pelizaeus-- merzbacher disease
Batten disease
Spinal muscular atrophy type 1
Ketotic glycinemia
Galactosialidosis
Hurler-Scheie Syndrome
Fabry's disease
more...
Diseases and disorders
(65)
Katayama fever
Klumpke paralysis
Kufs disease
Keratosis seborrheic
Leukodystrophy
Leukodystrophy
Kidney failure, acute
Keratitis
Kaposis Sarcoma
Koilonychia
Kidney failure, chronic
Sea-blue histiocyte syndrome
Sicca
Lymphohistiocytosis
Sphingolipidoses
Galactosyl- ceramidase deficiency disease
Acute biphenotypic leukemia
Myelofibrosis
Progressive sclerosing poliodystrophy
Reticular dysgenesis
Neurological disorders
Kernicterus
Keratoconj- unctivitis sicca
Keratin cyst
Alzheimer disease type 2
Hypotonia
Kyrle disease
Kwashiorkor
Temporal arteritis
Myotonic dystrophy type 2
Demyelinating diseases
Achondrogenesis type 2
Juvenile primary lateral sclerosis
Hypomyelination
Cerebrotendineous xanthomatosis
Klinefelters syndrome
GM1 gangliosidoses
Jansky-bielschowsky disease
GM2 gangliosidoses
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Gaucher disease
Farber disease
Lysosomal storage diseases
Metachromatic leukodystrophy
Gangliosidoses
Sly syndrome
Alexander disease
Schindler disease
Tay Sachs disease
Wolman disease
Sandhoff disease
Kniest dysplasia
Infantile Refsum disease
Canavan disease
Pelizaeus-- merzbacher disease
Batten disease
Spinal muscular atrophy type 1
Klippel Trenaunay Weber syndrome
Refractory anemia with ringed sideroblasts
Galactosialidosis
Menkes syndrome
Klein-Waardenburg syndrome
Hurler-Scheie Syndrome
Spondyloep- imetaphyseal dysplasia, Strudwick type
Fabry's disease
more...
Kidney diseases
Kimmelstiel-Wilson disease
Kidney tumor
Kidney failure, acute
Kidney failure, chronic
Polycystic kidney
Symptoms
Decerebrate posturing
Failure to thrive
Seizure
Changes in muscle tone
Keratoconj- unctivitis sicca
Hypotonia
Signs and tests
CSF albumin
MRI of the head
Nerve conduction study
Retina
Abnormal posturing
See also
(20)
Lateral collateral ligament
Medial collateral ligament, knee
Korsakoff psychosis
Interstitial keratitis
Meniscus (knee)
Meniscus (knee)
Galactosyl- ceramidase
Knock knees
Galactocerebroside
Beta galactosidase
People of Scandinavian descent
Myelin
Hirayama syndrome
Knee injury
Glycolipid
Refractory anemia with excess blasts in transformation
Myoclonic Encephalopathy of infants
Ramsay Hunt syndrome type I
Sphingolipids
Amniocentesis
Autosomal recessive pattern
more...
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