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Pediatrics / Epidemiology / Newborn screening / Medical genetics / Medical tests / Inborn error of lipid metabolism / Methylmalonic acidemia / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Galactosemia / Medicine / Health / Rare diseases


Introduction to the Newborn Screening Fact Sheets Celia I. Kaye and Committee on Genetics Pediatrics 2006;118;[removed]DOI: [removed]peds[removed]This information is current as of September 6, 2006
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Document Date: 2012-01-12 15:50:53

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City

Washington DC / Rockville / Washington / DC / /

Company

PhD Health Resources / B BKT MUT PROP MCD ASA / Motulsky AG / /

Country

Puerto Rico / Guam / United States / US Virgin Islands / /

Facility

American College of Medical Genetics / Briscoe Library / Institute of Medicine / National Human Genome Research Institute / MD American College of Obstetricians / MD American College of Medical Genetics REFERENCES / MD American College of Medical Genetics National Institute / /

IndustryTerm

state law / online version / newborn screening systems / medium-chain triglyceride oil / carrier testing / important tool / usable energy source / /

MedicalCondition

hypotonia / unusual odor / lipid-storage myopathy / congenital adrenal hyperplasia / JE / dysarthria / HIV / persistent vomiting / seizures / Neurologic disease / GALE Other Metabolic Disorders A / certain genetic disorders / coma / citrullinemia / MCAD deficiency / galactosemia / cardiac arrhythmia / severe metabolic acidosis / certain disorders / acidemia Citrullinemia Hypermethioninemia Hyperornithinemia-hyperammonemia-homocitrullinuria FAO disorders / disorder / amino acid disorders / hyperammonemia produce coma / phenylketonuria / sudden infant death syndrome / liver disease / hypoglycemia / hypoketotic hypoglycemia / serious / treatable disorder / homocystinuria / hemoglobinopathies Tyrosinemia / mental retardation / cardiomyopathy / dysphagia / metabolic acidosis / argininemia / genetic disorder / Preterm Birth / neutropenia / particular disorders / lethargy / SIDS / brosis Galactosemia Galactose method GALT method Homocystinuria / FAO disorders / diseases / dehydrogenase deficiency / PKU / hypotonia / dystonia / deficiency / episodic dehydration / developmental delays/hypotonia / disorders / liver dysfunction / neonatal hepatitis / thrombocytopenia / muscle weakness / congenital hearing loss / concurrent illness / vitamin B12 disorders / Encephalopathy / tyrosinemia / skeletal myopathy / vulnerable-child syndrome / basal ganglia injury / cystic fibrosis / MS / neurologic symptoms / hemoglobinopathies / ataxia / tyrosinemia type / citrullinemia type II / ethylmalonic encephalopathy / Maple syrup urine disease MCAD deficiency PKU Sickle cell diseases / disease / hypothermia / congenital hypothyroidism / Organic Acid Disorders Amino Acid Disorders / C disease / rhabdomyolysis / numerous new metabolic disorders / toxoplasmosis / tyrosinemia type II / citrullinemia type I / sickle cell disease / hypogammaglobulinemia / biotinidase deficiency / metabolic disease / maple syrup urine disease / nonketotic hyperglycinemia / respiratory distress / dehydration / /

MedicalTreatment

Total Parenteral Nutrition / counseling / /

Organization

National Human Genome Research Institute / Health Resources and Services Administration / AAP Committee on Genetics / Council of Regional Networks for Genetic Services / American Academy of Pediatrics Downloaded / the American College / Committee on Genetics ABSTRACT Newborn / AD HOC WRITING SUBCOMMITTEE / American College of Obstetricians / Newborn Screening Task Force / Institute of Medicine / Committee on Genetics / National Newborn Screening and Genetic Resource Center / National Academy of Sciences / General Accounting Office / Task Force on Genetic Testing / MS Centers for Disease Control and Prevention / American College of Medical Genetics REFERENCES / United Nations / American College of Medical Genetics National Institute of Child Health / Committee on Genetics Pediatrics / American Academy of Pediatrics / AMERICAN ACADEMY OF PEDIATRICS False-positive / Advisory Committee / SC AD / /

Person

Gregory M. Enns / Joseph H. Hersh / Jeffrey R. Gruen / Howard M. Saal / Celia I. Kaye / Virginia Washington West Virginia Wisconsin Wyoming / Sonja A. Rasmussen / G. Bradley Schaefer / Sonya Pang / Virginia Washington West / Peter A. Lane / Nancy J. Mendelsohn / Frank Accurso / Michele A. Lloyd-Puryear / Virginia Washington West Virginia Wisconsin / Montana Nebraska Nevada / /

Position

obstetrician / the pediatrician / Fernhoff PM / et al / physician / HEAR CH CAH Hb S/S Hb S/A Hb / Chairperson / HB / obstetrician / pediatrician / /

ProvinceOrState

District of Columbia / Illinois / /

Region

West Virginia / /

Technology

published.9 MS/MS technology / Human Genome / MS/MS technology / /

URL

www.pediatrics.org/cgi/content/full/118/3/e934 / www.pediatrics.org / http /

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