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Rare diseases / Newborn screening / Methylmalonic acidemia / Thiolase / Propionic acidemia / Isovaleric acidemia / Malonyl-CoA / Glutaric aciduria type 1 / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Genetic genealogy / Medical genetics


Missouri Newborn Screening Disorders Tested Biotinidase deficiency (BIOT) Classical galactosemia (GALT) Congenital adrenal hyperplasia (CAH) Congenital primary hypothyroidism (CH) Cystic fibrosis (CF)
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Document Date: 2013-07-10 12:04:01


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City

Boston / /

Company

hydroxyacyl-CoA / ketoacyl-CoA / Missouri Newborn Screening Laboratory / acyl-CoA / /

MedicalCondition

Congenital primary hypothyroidism / vitamin B12 disorders / citrin deficiency / I hydratase deficiency / Carnitine palmitoyl transferase deficiency II / Amino Acid Disorders Argininemia / Trifunctional protein deficiency / Tyrosinemia / Congenital adrenal hyperplasia / Organic Acid Disorders / disorder / dehydrogenase deficiency / PKU / above disorders / hemoglobin-C disease / metabolic/genetic disease / Phenylketonuria / deficiency / Multiple carboxylase deficiency / arginase deficiency / Cystic fibrosis / Dienoyl-CoA reductase deficiency / CoA carboxylase deficiency / Isobutyryl-CoA dehydrogenase deficiency / acylcarnitine translocase deficiency / Maple syrup urine disease / Hemoglobinopathies Sickle cell disease / Citrullinemia / Homocystinuria / /

Position

Hb / /

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