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NBMS Site Map
Amino Acid Metabolic Disorders PKU - Phenylketonuria HTML MSUD - Maple Syrup Urine Disease (Branched-Chain Ketoaciduria) HTML HCY - Homocystinuria HTML CIT - Citrullinemia ASA - Argminosuccinic TYRI - Tyrosinemia HTML Organic Acid Metabolism Disorders IVA - Isovaleric Acidemia GAI – Glutaric Acidemia Type I HMG - Hydroxy 3 Methylglutary1-CoA Lyase Deficiency (HMG) MUT - Methylmalonic acidemia due to Mutase deficiency 3MCC - 3 Methylcrotonyl - COA Carboxylase deficiency PROP - Propionic acidemia BKT - Beta - Ketothiolase deficiency Fatty Acid Oxidation Disorders MCAD - Medium-Chain acyl-CoA Dehydrogenase HTML VLCAD - Very Long Chain acyl – CoA dehydrogenase deficiency LCHAD - Long - Chain 3-OH acyl – CoA dehydrogenase deficiency TFP - Trifunctional protein deficiency CUD - Carnitine uptake defect Hemoglobinopathies Hb SS - Sickle Cell Disease and Other Hemoglobinopathies HTML Hb S/Th - Hb S/ Beta - Thalassemia Hb S/C - Hb S/C disease Others CH - Congenital Hypothyroidism HTML BIOT - Biotinidase Deficiency
HTML CAH - Congenital Adrenal Hyperplasia HTML GALT - Classical Galactosemia HTML HEAR - Congenital Hearing Loss HTML CF - Cystic Fibrosis HTML
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