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Hyperoxaluria, Primary
Hyperoxaluria, primary
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Diseases and disorders
(36)
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Oxalosis
Galactose-- 1-phosphate uridylyltransferase galactosemia
Fructose bisphosphatase deficiency
Fructose bisphosphatase deficiency
GSD type IV
GSD type II
Hyperoxaluria
Ehlers-danlos syndrome dermatosparaxis type
Myotonic dystrophy type 2
Essential fructosuria
Calcium stone
Aciduria
Hyperuricosuria
Spondyloep- imetaphyseal dysplasia, Strudwick type
Hyperprolinemia
Nephrocalcinosis
Hyperpheny- lalaninemia
Hypercalciuria
Juvenile primary lateral sclerosis
Hereditary motor sensory neuropathy
Pyridoxine- -dependent epilepsy
X-linked sideroblastic anemia
Metabolic diseases
Cystinuria
Dent disease
Kidney diseases
Hypospadias
Hypercalcemia
Alport syndrome
Hemangioma
Alkaptonuria
Hematologic disease
Renal tubular acidosis
Hermansky-Pudlak syndrome
Hyperammonemia
more...
Inborn errors of metabolism
(107)
GSD type I
GSD type III
GSD type V
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Propionic acidemia
Propionic acidemia
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
Aciduria
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
GSD type II
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperpheny- lalaninemia
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
Lipid storage disorders
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Metabolic diseases
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
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Primary carnitine deficiency
Prolidase deficiency
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...
Autosomal recessive disorders
(15)
Galactose epimerase deficiency
Otospondyl- omegaepiphyseal dysplasia
GSD type I
GSD type V
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactose-- 1-phosphate uridylyltransferase galactosemia
GSD type III
GSD type II
Essential fructosuria
Hyperprolinemia
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Hyperpheny- lalaninemia
Propionic acidemia
Cystinuria
Alkaptonuria
Hermansky-Pudlak syndrome
more...
Hepatology
(8)
GSD type 0
Aminotransferase
Liver transplantation
Glycogen
GSD type I
GSD type I
GSD type III
GSD type IV
GSD type II
more...
Oxalates
(11)
Calcium oxalate
Oxalate
Oxalic acid
Barium oxalate
Bis(2,4,5-- trichlorop- henyl-6-carbopentoxyphenyl)oxalate
Bis(2,4,5-- trichlorophenyl-6-carbopentoxyphenyl)oxalate
Cerium oxalate
Diphenyl oxalate
Disodium oxalate
Oxalate minerals
Potassium ferrioxalate
Silver oxalate
more...
Carbohydrates
Monosaccharide
Glycolysis
Glycogen
Metabolism
Catabolism
Excretion
Peroxisomal
Metabolic diseases
See also
(20)
AGXT
GRHPR
Galactose metabolism
Struvite
Glyoxylate
Glyoxylate
Enzymes
Glyoxylate reductase
D-glycerate
Hydroxypyruvate reductase
Pentose phosphate pathway
J. Urol.
Cystine
Glucose 6-phosphatase
Alanine
Gierke
Percutaneous nephrolithotomy
Acei
Renal transplantation
Hyperparathyroidism
Extracorporeal Shockwave Lithotripsy
more...
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