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Enfermedades
- Información General
- 2,4 Dienoyl-CoA reductase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconic aciduria
- Alpha thalassemia
- Arginase deficiency
- Argininosuccinic aciduria
- Deficiencia de beta-cetotiolasa
- Biopterin defect in cofactor biosynthesis
- Defecto de regeneración de biopterinas
- Deficiencia de biotinidasa
- Carbamoyl phosphate synthetase I deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Citrulinemia tipo I
- Citrulinemia tipo II
- Galactosemia clásica
- Classic phenylketonuria
- hiperplasia-suprarrenal-congénita
- hipotiroidismo-congénito
- Toxoplasmosis-congénita
- Critical congenital heart disease
- Congenital cytomegalovirus
- Deafness and Hearing Loss
- Encefalopatía etilmalónica
- Fabry disease
- Deficiencia de galactoepimerasa
- Galactokinase deficiency
- Enfermedad de Gaucher
- Deficiencia de glucosa-6-fosfato deshidrogenasa
- Deficiencia de glutamato formiminotransferasa
- Glutaric acidemia type I
- Glutaric acidemia type II
- Deficiencia de glutatión sintetasa
- Deficiencia de guanidinoacetato metiltransferasa
- Gyrate atrophy of the choroid and retina
- Holocarboxylase synthetase deficiency
- Homocistinuria
- Enfermedad de HSD10
- Virus de inmunodeficiencia humana
- Hipermetioninemia
- Hiperprolinemia
- Deficiencia de isobutiril-CoA deshidrogenasa
- Isovaleric acidemia
- Krabbe disease
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Malonyl-CoA decarboxylase deficiency
- Maple syrup urine disease
- Deficiencia de acil-CoA deshidrogenasa de cadena media
- Deficiencia de cetoacil-CoA tiolasa de cadena media
- Methylmalonic acidemia (cobalamin disorders)
- Methylmalonic acidemia (methylmalonyl-CoA mutase)
- Acidemia metilmalónica con homocistinuria
- Mitochondrial trifunctional protein deficiency
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type II
- Enfermedad de Niemann-Pick
- Hiperfenilalaninemia no PKU
- Hiperglicinemia no cetósica
- Deficiencia de ornitina transcarbamilasa
- Ornithine translocase deficiency
- Pompe disease
- Primary carnitine deficiency
- Propionic acidemia
- Pyruvate carboxylase deficiency
- S, βeta-thalassemia
- S,C disease
- S,S disease (sickle cell anemia)
- Severe combined immunodeficiencies
- Short/branched chain acyl-CoA dehydrogenase deficiency
- Short-chain acyl-CoA dehydrogenase deficiency
- Hemoglobin trait/carrier
- Spinal muscular atrophy
- T-cell related lymphocyte deficiencies
- Tyrosinemia type I
- Sickle Cell Trait
- Tyrosinemia, type II
- Tyrosinemia, type III
- Various other hemoglobinopathies
- Very long-chain acyl-CoA dehydrogenase deficiency
- X-linked adrenoleukodystrophy
- Zellweger spectrum disorder
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