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Niemann-pick Disease, Type C
Niemann-Pick disease, type C
Overview
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Lipid storage disorders
(13)
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Gangliosidoses
Gangliosidoses
Gaucher disease
Krabbe disease
Multiple sulfatase deficiency
Sandhoff disease
Tay Sachs disease
Wolman disease
Niemann–Pick disease
Schindler disease
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Metabolic disorders
(59)
Galactosemias
Inborn errors of metabolism
Neuronal ceroid lipofuscinosis
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
Galactosemic cataract
Gangliosidoses
Gaucher disease
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
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
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Inborn errors of metabolism
(106)
Cholesteryl ester storage disease
Lipidosis
Lysosomal disease
Lysosomal storage diseases
Pompe disease
Pompe disease
Storage disease
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
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
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
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
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
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
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Autosomal recessive disorders
(17)
Nemaline myopathy
Tay-sachs disease, ab variant
Cerebrotendineous xanthomatosis
Batten disease
Mucopolysa- ccharidosis
Mucopolysa- ccharidosis
Mucolipidosis IV
Gaucher disease
Tay Sachs disease
Krabbe disease
Gangliosidoses
Pompe disease
Multiple sulfatase deficiency
Farber disease
Wolman disease
Lipidosis
Sandhoff disease
Neuronal ceroid lipofuscinosis
more...
Rare diseases
(16)
Tay-sachs disease, ab variant
Gaucher disease
GM1 gangliosidoses
Tay Sachs disease
Fabry disease
Fabry disease
Cholesteryl ester storage disease
GM2 gangliosidoses
Krabbe disease
Gangliosidoses
Pompe disease
Multiple sulfatase deficiency
Farber disease
Wolman disease
Lipidosis
Sandhoff disease
Neuronal ceroid lipofuscinosis
more...
Neurological disorders
(8)
Neuropathy
Pick Disease
Leukodystrophies
Dysautonomia
Nemaline myopathy
Nemaline myopathy
Batten disease
Wolman disease
Neuronal ceroid lipofuscinosis
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Neurology
Neurofibromatosis 2
Dystonic
Neurofibrillary tangles
Tay Sachs disease
Neuropathy
Lysosomal storage diseases
(39)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidoses
Gaucher disease
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lipidosis
Lysosomal disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann–Pick disease
Pompe disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Genetic disorders
(27)
Niemann-Pick disease, SMPD1-associated
Nevoid basal cell carcinoma syndrome
Jansky-bielschowsky disease
Noonan syndrome
Nemaline myopathy
Nemaline myopathy
Neurofibromatosis 2
Tay-sachs disease, ab variant
Cerebrotendineous xanthomatosis
Batten disease
Gaucher disease
GM1 gangliosidoses
Tay Sachs disease
Fabry disease
Cholesteryl ester storage disease
GM2 gangliosidoses
Krabbe disease
Gangliosidoses
Pompe disease
Multiple sulfatase deficiency
Farber disease
Wolman disease
Lipidosis
Leukodystrophies
Mucopolysa- ccharidosis
Sandhoff disease
Galactosemias
Mucolipidosis IV
more...
Diseases and disorders
(48)
Facial neuropathy
Neurogenic arthropathy
Necrotizing ulcerative gingivitis
Nabothian cyst
Neurotic depression
Neurotic depression
Sea-blue histiocyte syndrome
Splenomegaly
Cataplexy
Histiocytosis non-langerhans-cell
Sphingolipidoses
Histiocytosis
Purpura, schoenlein-henoch
Physiologic nystagmus
Primary progressive aphasia
Neuronopathic gaucher disease
Nevoid basal cell carcinoma syndrome
Nemaline myopathy
Neurofibromatosis 2
Cerebrotendineous xanthomatosis
Metabolic disorders
Batten disease
Gaucher disease
GM1 gangliosidoses
Tay Sachs disease
Fabry disease
Cholesteryl ester storage disease
Jansky-bielschowsky disease
GM2 gangliosidoses
Krabbe disease
Gangliosidoses
Neuropathy
Pompe disease
Multiple sulfatase deficiency
Pick Disease
Lysosomal storage diseases
Farber disease
Wolman disease
Lipidosis
Storage disease
Mucopolysa- ccharidosis
Sandhoff disease
Dystonic
Galactosemias
Noonan syndrome
Rare diseases
Dysautonomia
Mucolipidosis IV
Neuronal ceroid lipofuscinosis
more...
Lipids
Glycolipid
Sphingolipids
Ceramide
Hepatology
Hepatosplenomegaly
Enlarged liver
Liver biopsy
Gaucher disease
Cholesteryl ester storage disease
Pompe disease
See also
(20)
Niemann-pick disease type d
Nevus araneus
Needle cricothyrotomy
Nephritis, interstitial
Nevus sebaceous
Nevus sebaceous
Natal teeth
Common peroneal nerve
Neonatal conjunctivitis
Nightmare disorder
Necrotizing pneumonia
Necrotizing vasculitis
Miglustat
NPC1
Nasal flaring
Sphingomyelinase
Ara Parseghian
Enzyme replacement therapy
Nail abnormalities
Sphingomyelin
Ludwig Pick
more...
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