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Branched-chain amino acids / Biology / Malonyl-CoA decarboxylase deficiency / Electron-transferring-flavoprotein dehydrogenase / Newborn screening / Isoleucine / Organic acidemia / Acyl CoA dehydrogenase / ETFA / Health / Rare diseases / Chemistry


Genetics Newborn Screening Program
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Document Date: 2007-07-09 15:52:59

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Company

acyl-CoA Dehydrogenase / /

Facility

Metabolic Treatment Center / /

IndustryTerm

short-methylbranched chain / /

MedicalCondition

chronic lactic acidemia / ketosis / mental retardation / chronic diarrhea / encephalopathy / rare disorder / disorder / hypotonia / spastic diplegia / diarrhea / Aciduria (EDA) Introduction Ethylmalonic Aciduria Encephalopathy / neonatal hypotonia / recurrent petechiae / involuntary muscle spasms / deficiency / metabolic acidosis / gross hematuria / severe progressive pyramidal dysfunction / mitochondrial disorders / legs spasms / /

Organization

Yale / Metabolic Treatment Center / /

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Position

physician / /

Technology

MRI / /

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