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Conditions
- Conditions Overview
- 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
- Beta-Ketothiolase Deficiency
- Biopterin defect in cofactor biosynthesis
- Biopterin defect in cofactor regeneration
- Biotinidase Deficiency
- Carbamoyl phosphate synthetase I deficiency
- Carnitine Palmitoyltransferase I Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Carnitine-Acylcarnitine Translocase Deficiency
- Citrullinemia, type I
- Citrullinemia, type II
- Classic Galactosemia
- Classic phenylketonuria
- Congenital Adrenal Hyperplasia
- Congenital Hypothyroidism
- Congenital Toxoplasmosis
- Critical Congenital Heart Disease
- Cystic fibrosis
- Congenital Cytomegalovirus
- Deafness and Hearing Loss
- Ethylmalonic Encephalopathy
- Fabry disease
- Galactoepimerase Deficiency
- Galactokinase Deficiency
- Gaucher Disease
- Glucose-6-phosphate dehydrogenase deficiency
- Glutamate Formiminotransferase Deficiency
- Glutaric Acidemia Type I
- Glutaric Acidemia Type II
- Glutathione Synthetase Deficiency
- Guanidinoacetate methyltransferase deficiency
- Gyrate Atrophy of the Choroid and Retina
- Hemoglobin trait/carrier
- Holocarboxylase Synthetase Deficiency
- Homocystinuria
- HSD10 Disease
- Human immunodeficiency virus
- Hypermethioninemia
- Hyperprolinemia
- Isobutyryl-CoA Dehydrogenase Deficiency
- Isovaleric Acidemia
- Krabbe Disease
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Malonyl-CoA Decarboxylase Deficiency
- Maple syrup urine disease
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Medium-Chain Ketoacyl-CoA Thiolase Deficiency
- Methylmalonic Acidemia (Cobalamin Disorders)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase)
- Methylmalonic Acidemia with Homocystinuria
- Mitochondrial Trifunctional Protein Deficiency
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type II
- Niemann-Pick Disease
- Non-PKU Hyperphenylalaninemia
- Nonketotic hyperglycinemia
- Ornithine transcarbamylase deficiency
- Ornithine Translocase Deficiency
- Pompe Disease
- Primary Carnitine Deficiency
- Propionic Acidemia
- Pyruvate Carboxylase Deficiency
- S, βeta-Thalassemia
- S,C Disease
- Research and Quality Improvement
- S,S Disease (Sickle Cell Anemia)
- Severe combined immunodeficiencies
- Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
- Spinal Muscular Atrophy
- T-cell related lymphocyte deficiencies
- Tyrosinemia type I
- Mucopolysaccharidosis Type IVA
- 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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