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Medical genetics / Newborn screening / Methylmalonic acidemia / Propionic acidemia / Biotinidase deficiency / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Malonyl-CoA decarboxylase deficiency / 3-Methylcrotonyl-CoA carboxylase deficiency / Isovaleric acidemia / Health / Rare diseases / Genetic genealogy


DRAFT[removed]ARTICLE 2. NEWBORN AND INFANT SCREENING Section R9[removed].
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Document Date: 2013-08-21 11:09:22


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Company

acyl-CoA / Arizona State Laboratory / /

Event

Product Issues / /

Facility

Arizona State Laboratory / Screening laboratory / /

IndustryTerm

Medium chain / health-related services / inpatient services / blood products / food source / phone telephone number / inpatient medical services / health care insurance / hospital services / audiological equipment / food / /

MedicalCondition

Classic galactosemia / Hemoglobin S/Beta-thalassemia / Trifunctional protein deficiency / Congenital adrenal hyperplasia / mutase deficiency / disease / Beta-ketothiolase deficiency / congenital disorders / hemoglobinopathy / Sickle cell anemia / Hemoglobin S/C disease / dysfunction / Congenital hypothyroidism / A. Cystic fibrosis / Citrullinemia / Congenital Disorders A / another inherited hemoglobinopathy called hemoglobin C. / Tyrosinemia / Disorder / sickle cell disease / congenital disorder / beta thalassemia / Biotinidase deficiency / Multiple carboxylase deficiency / Cystic fibrosis / hearing loss / CoA carboxylase deficiency / Maple syrup urine disease / /

MedicalTreatment

Parenteral nutrition / antibiotics / blood transfusion / /

Organization

Arizona Department of Health Services / screening laboratory Arizona State Laboratory / /

Person

Homocystinuria / Phenylketonuria / /

Position

physician / physician assistant / Registered nurse / Physician / midwife / physician assistant / registered nurse / Physician assistant / Audiologist / /

Product

glycine / methylmalonyl-CoA mutase activity / very long-chain acyl-CoA dehydrogenase activity / branched chain-keto acid dehydrogenase activity / 3methylcrotonyl-CoA carboxylase activity / isovaleryl-CoA dehydrogenase activity / propionyl-CoA carboxylase activity / activity / medium-chain acyl-CoA dehydrogenase activity / glutaryl-CoA dehydrogenase activity / functioning / -hydroxy-3methylglutaryl-CoA lyase activity / -hydroxylase activity / fumarylacetoacetate hydrolase activity / phenylalanine hydroxylase activity / mitochondrial trifunctional protein activity / mitochondrial acetoacetyl-CoA thiolase activity / sodium / cystathione-ß-synthase activity / biotinidase activity / galactose-1-phosphate uridyltranferase activity / argininosuccinate lyase activity / long-chain / argininosuccinate synthetase activity / /

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