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Medical genetics / Newborn screening / Propionic acidemia / Methylmalonic acidemia / Isovaleric acidemia / Fatty-acid metabolism disorder / 3-Methylcrotonyl-CoA carboxylase deficiency / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Maple syrup urine disease / Health / Rare diseases / Genetic genealogy


Microsoft Word - Disorder list Jan 10
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Document Date: 2012-04-12 12:47:40

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File Size: 13,71 KB

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acyl-CoA / /

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C disease / Hemoglobin Disorders / beta-thalassemia / Trifunctional protein deficiency / Tyrosinemia / Organic Acid Disorders / Congenital adrenal hyperplasia / Fatty Acid Oxidation Disorders / dehydrogenase deficiency / DISORDERS Endocrine Disorders / Amino Acid Disorders / Beta-ketothiolase deficiency / Sickle cell anemia / Multiple carboxylase deficiency / Biotinidase deficiency / Galactosemia (GALT) Cystic Fibrosis / Hearing Loss / Homocystinuria (HCY) Citrullinemia / carboxylase deficiency / Maple syrup urine disease / Congenital hypothyroidism / acidemia-mutase deficiency / Disorders / Other Disorders / /

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Hb / /

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www.aznewborn.com / /

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