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Rare diseases / Newborn screening / Inborn error of lipid metabolism / Fatty-acid metabolism disorder / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Inborn error of metabolism / Medical genetics / Carnitine-acylcarnitine translocase deficiency / Isovaleric acidemia / Health / Medicine / Biology


Microsoft Word - RCPU Newborn Screening.doc
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Document Date: 2007-12-31 10:54:00


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File Size: 101,07 KB

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City

Gainesville / Florida Penny Edwards / /

Company

GALT Amino Acid Disorders Arginosuccinic acidemia ASA / acyl-CoA / LabCorp / Philips / Florida Newborn Screening Program / /

Country

United States / /

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Event

Product Issues / /

Facility

Pediatric Genetics University of Florida Box / Tacachale campus / American College of Medical Genetics / /

IndustryTerm

Treatment of amino acid disorders / metabolic products / treatment of patients with amino acid disorders / law requiring / energy / /

MedicalCondition

viral illness / hemoglobin disorders / Methylcrotonyl-CoA Carboxylase deficiency / Trifunctional protein deficiency / Organic Acid Disorders / fatty acid oxidation disorders / myopathy / preventable mental retardation / Metabolic Disorders Galactosemias Galactosemia / Screened disorders / treatable disorders / Carnitine palmityl transferase deficiency / several metabolic disorders / II Organic Acid Disorders Beto-ketothiolase deficiency / galactosemia / disorder / II dehydrogenase deficiency / amino acid disorders / phenylketonuria / sudden infant death syndrome / metabolic disorders / MS / hearing loss / hypoglycemia / hypoketotic hypoglycemia / Phenylketonuria (PKU) Homocystinuria / fatty acid oxidation disorder / endocrine disorders / mental retardation / cardiomyopathy / mutase deficiency / disease / I Tyrosinemia / rare metabolic disorders / Category Metabolic Disorder / metabolic acidosis / Acid Disorders / acidemia ASA Citrullinemia CIT Phenylketonuria PKU Homocystinuria HCY Maple syrup urine disease MSUD Tyrosinemia / PKU / inborn errors of metabolism / adrenal hyperplasia HYPOTH Congenital hypothyroidism Hemoglobin Disorders HB S/Th Hb S/Beta-thalassemia HB S/C HB S/C disease SCA Sickle cell anemia Miscellaneous Disorders HL Hearing Loss BIOT Biotinidase Deficiency CF Cystic Fibrosis / Resources Amino Acid Disorders Fatty Acid Oxidation Disorders / maple syrup urine disease / disorders / genetic disorders / /

MedicalTreatment

protein-restricted diets / /

Organization

Dept of Health / Genetics University / R.C. Philips Unit / Tacachale Center / Pediatric Genetics University / National Newborn Screening and Genetics Resource Center of the US / the American College / Department of Children and Families / Education Unit / University of Florida / Department of Health / Genetics Resource Center of the US / C. Philips Research and Education Unit / /

Person

Florida Newborn / Roberto T. Zori / McDowell G. Newborn / Lois Taylor / M.Sc / Robert Guthrie / Raymond C. Philips / /

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Position

state and national leader / adrenal hyperplasia HYPOTH Congenital hypothyroidism Hemoglobin Disorders HB S/Th Hb S/Beta-thalassemia HB S/C HB / Superintendent / Director / NEWSLETTER Editor / /

Product

activity / /

ProvinceOrState

Mississippi / Florida / Massachusetts / /

SportsEvent

ufl / /

Technology

http / CAT / /

URL

www.doh.state.fl.us / www.acmg.net / http /

SocialTag