Prab: CSV import

2025-02-17T01:57:00Z

CSV import

← Older revision		Revision as of 01:57, 17 February 2025
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	* '''[[X-linked severe combined immunodeficiency]]'''		* '''[[X-linked severe combined immunodeficiency]]'''
	{{rarediseases}}		{{rarediseases}}
			<gallery>
			File:Phenylketonuria_testing.jpg
			File:Sickle_cells.jpg
			</gallery>

Prab: Created page with "* '''2,4-Dienoyl-CoA reductase deficiency''' * '''2-methyl-3-hydroxybutyric aciduria''' * '''2-methylbutyryl-CoA dehydrogenase deficiency''' * '''21-hydroxylase..."

2020-06-23T06:58:29Z

Created page with "* '''2,4-Dienoyl-CoA reductase deficiency''' * '''2-methyl-3-hydroxybutyric aciduria''' * '''2-methylbutyryl-CoA dehydrogenase deficiency''' * '''21-hydroxylase..."

New page

* '''[[2,4-Dienoyl-CoA reductase deficiency]]'''
* '''[[2-methyl-3-hydroxybutyric aciduria]]'''
* '''[[2-methylbutyryl-CoA dehydrogenase deficiency]]'''
* '''[[21-hydroxylase deficiency]]'''
* '''[[3-alpha hydroxyacyl-CoA dehydrogenase deficiency]]'''
* '''[[3-methylcrotonyl-CoA carboxylase deficiency]]'''
* '''[[3-methylglutaconyl-CoA hydratase deficiency (AUH defect)]]'''
* '''[[Alpha-1 antitrypsin deficiency]]'''
* '''[[Autosomal dominant type B hypercholesterolemia]]''' - Not a rare disease
* '''[[Barth syndrome]]'''
* '''[[Becker muscular dystrophy]]'''
* '''[[Beta ketothiolase deficiency]]'''
* '''[[Biotinidase deficiency]]'''
* '''[[Carbamoyl phosphate synthetase 1 deficiency]]'''
* '''[[Carnitine palmitoyl transferase 1A deficiency]]'''
* '''[[Carnitine palmitoyltransferase 2 deficiency]]'''
* '''[[Carnitine-acylcarnitine translocase deficiency]]'''
* '''[[Citrullinemia type I]]'''
* '''[[Citrullinemia type II]]'''
* '''[[Congenital cytomegalovirus]]'''
* '''[[Congenital human immunodeficiency virus]]'''
* '''[[Congenital hypothyroidism]]'''
* '''[[Congenital toxoplasmosis]]''' - Not a rare disease
* '''[[Cystic fibrosis]]'''
* '''[[Diabetes mellitus type 1]]''' - Not a rare disease
* '''[[Duchenne muscular dystrophy]]'''
* '''[[Ethylmalonic encephalopathy]]'''
* '''[[Fragile X syndrome]]'''
* '''[[Galactokinase deficiency]]'''
* '''[[Galactose epimerase deficiency]]'''
* '''[[Galactosemia]]'''
* '''[[Glucose-6-phosphate dehydrogenase deficiency]]'''
* '''[[Glutamate formiminotransferase deficiency]]'''
* '''[[Glutaric acidemia type I]]'''
* '''[[Glutaric acidemia type II]]'''
* '''[[Glycine N-methyltransferase deficiency]]'''
* '''[[Gyrate atrophy of choroid and retina]]'''
* '''[[Hemoglobin E disease]]'''
* '''[[Hemoglobin SC disease]]'''
* '''[[HMG CoA lyase deficiency]]'''
* '''[[Holocarboxylase synthetase deficiency]]'''
* '''[[Homocystinuria due to CBS deficiency]]'''
* '''[[Hyperlysinemia]]'''
* '''[[Hyperprolinemia]]'''
* '''[[Hyperprolinemia type 2]]'''
* '''[[Isobutyryl-CoA dehydrogenase deficiency]]'''
* '''[[Isovaleric acidemia]]'''
* '''[[Kernicterus]]'''
* '''[[Krabbe disease]]'''
* '''[[L-arginine:glycine amidinotransferase deficiency]]'''
* '''[[LCHAD deficiency]]'''
* '''[[Malonyl-CoA decarboxylase deficiency]]'''
* '''[[Maple syrup urine disease]]'''
* '''[[Medium-chain 3-ketoacyl-coa thiolase deficiency]]'''
* '''[[Medium-chain acyl-coenzyme A dehydrogenase deficiency]]'''
* '''[[Methionine adenosyltransferase deficiency]]'''
* '''[[Methylmalonic acidemia]]'''
* '''[[Methylmalonic acidemia with homocystinuria]]'''
* '''[[Methylmalonic acidemia with homocystinuria type cblD]]''' - See '''[[Methylmalonic acidemia with homocystinuria]]'''
* '''[[Methylmalonic aciduria, cblA type]]''' - See '''[[Adenosylcobalamin deficiency]]'''
* '''[[Methylmalonic aciduria, cblB type]]''' - See '''[[Adenosylcobalamin deficiency]]'''
* '''[[Mild phenylketonuria]]'''
* '''[[Mitochondrial trifunctional protein deficiency]]'''
* '''[[Mucopolysaccharidosis type I]]'''
* '''[[Not otherwise specified 3-MGA-uria type]]'''
* '''[[OPA3 defect]]'''
* '''[[Ornithine transcarbamylase deficiency]]'''
* '''[[Ornithine translocase deficiency syndrome]]'''
* '''[[Phenylketonuria]]'''
* '''[[Primary carnitine deficiency]]'''
* '''[[Propionic acidemia]]'''
* '''[[Severe combined immunodeficiency due to complete RAG1/2 deficiency]]'''
* '''[[Short-chain acyl-CoA dehydrogenase deficiency]]'''
* '''[[Sickle beta thalassemia]]'''
* '''[[Sickle cell anemia]]'''
* '''[[Tetrahydrobiopterin deficiency]]'''
* '''[[Turner syndrome]]'''
* '''[[Tyrosinemia type 1]]'''
* '''[[Tyrosinemia type 2]]'''
* '''[[Tyrosinemia type 3]]'''
* '''[[VLCAD deficiency]]'''
* '''[[Wilson disease]]'''
* '''[[X-linked creatine deficiency]]'''
* '''[[X-linked severe combined immunodeficiency]]'''
{{rarediseases}}

Newborn screening - Revision history

Prab: CSV import

Prab: Created page with "* '''2,4-Dienoyl-CoA reductase deficiency''' * '''2-methyl-3-hydroxybutyric aciduria''' * '''2-methylbutyryl-CoA dehydrogenase deficiency''' * '''21-hydroxylase..."