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Differential Diagnosis For Neonatal metabolic screening (mass spec) abnormal

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Neonatal metabolic screening (mass spec) abnormal
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Metabolic, Storage Disorders: 2,4 Dienoyl-CoA reductase deficiency; Carnitine/Acylcarnitine translocase deficiency; Citrullinemia/Argininsuccinicaciduria; Combined carboxylase/Biotinidase deficiency; Hydroxybutyric acidemia; Hydroxymethylglutaryl CoA lyase deficiency; HyperArgininemia; Isobutyryl-CoA dehydrogenase deficiency; Ketothiolase deficiency; Ketotic hyperglycinemia, idiopathic; Methyl crotonyl CoA carboxylase deficiency; Methylmalonic acidemia/ketotic glycine; Phenylketonuria/PKU; Propionicacidemia/ketotic glycinemia; Pyroglutamic acidemia; Trifunctional protein deficiency/metabolic; Acyl-CoA Dehydrogenase/short chain def; Beta-hydroxyisolvaleric acidemia; LCHAD/Long chain OH-CoA dehydrogenase def; MCAD/Medium chain OH-CoA Dehydrogenase def; Proprionic acidemia/congenital; Tyrosinemia, hereditary; VLCHAD/Very Long chain OH-CoA dehydrogenase def; Carnitine palmityltranferase deficiency; Galactosemia; Glutaric aciduria/Acidemia; Glutaric aciduria/type II; Homocystinuria/homocystinemia; Maple syrup urine disease; Pipecolic acidemia; Hyperammonemia/Ornithemia/Homocitrullinuris/HHH; Hypermethioninemia; Organic acidemias/Metabolic syndromes; Unclassified fatty oxidation syndromes (U-FAOD)
Synonyms: 0-6 weeks old, Abnormal, baby, infant newborn, Infants (Newborn), Infants Newborn, Metabolic function test abnormal, Neonatal, Neonatal state, Neonate, Neonates, Newborn, NEWBORN (0-27 DAYS), Newborn (finding), Newborn (person), newborn human (0-6 weeks), Newborn infant, Newborn Infants, Newborns
Definition: Be the first to add a definition for Neonatal metabolic screening (mass spec) abnormal
External Links Related to Neonatal metabolic screening (mass spec) abnormal: Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

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