Back to Results
First PageMeta Content
Pediatrics / Mental retardation / Epidemiology / Newborn screening / Phenylketonuria / Galactosemia / Isovaleric acidemia / 2-Methylbutyryl-CoA dehydrogenase deficiency / 3-Methylcrotonyl-CoA carboxylase deficiency / Health / Medicine / Rare diseases


Annual Report2012_corrected.pub
Add to Reading List

Document Date: 2014-09-09 13:55:11


Open Document

File Size: 226,49 KB

Share Result on Facebook

City

Records Linkage / Type / performance metrics / Screening / Atlanta / screening performance metrics / Lansing / not include hearing screening results.1 Screening / /

Company

HPLC High Performance Liquid Chromatography HRSA Health Resources / Michigan Newborn Screening Program 2012 Annual Report / acyl-CoA / State Laboratory / CIT ASA / MDCH NBS Laboratory / Newborn Screening Laboratory / Services Administration MCIR Michigan Care Improvement Registry / ketoacyl-CoA / BS / PhD / /

Event

FDA Phase / /

Facility

Annual Report Acronym Key Acronym Name ACMG American College of Medical Genetics CCHD Critical Congenital Heart Disease CDC Centers for Disease Control and Prevention CHM Children / M University of Michigan / American College of Medical Genetics / State Laboratory / Hospital of Michigan CHMMC Children / University of Michigan / Hospital of Michigan Metabolic Clinic EBC Electronic Birth Certificate FIGLU Formiminoglutamic / /

IndustryTerm

medical management / social media posts / validated screening protocol / /

MedicalCondition

H disease / Trifunctional protein deficiency / congenital adrenal hyperplasia / Sickle cell anemia / Dienoyl-CoA reductase deficiency / citrullinemia / additional three amino acid disorders / II deficiency / galactosemia / critical congenital heart disease / un-detected disorders / disorder / phenylketonuria / cystic fibrosis / MS / Blood Disorders / homocystinuria / hemoglobinopathies / S/C disease / additional disorder / Endocrine Disorders / additional MS/MS disorders / Sickle Cell Disorders / I deficiency / II Endocrine Disorders / severe combined immunodeficiency / CoA dehydrogenase deficiency / mutase deficiency / disease / MS/MS Disorders / Beta-ketothiolase deficiency / acidemia Fatty Acid Oxidation Disorders Hemoglobinopathies / Argininemia / Variant hemoglobinopathies / hemoglobinopathy patients receiving transfusions / critical congenital heart defects / Congenital Hypothyroidism / untreatable / genetic disorder / Carnitine acylcarnitine translocase deficiency / H disorder / Michigan SCID / diseases / PKU / sickle cell disease / Amino Acid Disorders Organic Acid Disorders / highlighted disorders / SCID / Beta thalassemia / Deficiency / biotinidase deficiency / Multiple carboxylase deficiency / CoA carboxylase deficiency / Isobutyryl-CoA dehydrogenase deficiency / maple syrup urine disease / Fibrosis / medium chain acylCoA dehydrogenase deficiency / disorders / Medium-chain acyl-CoA dehydrogenase deficiency Other Disorders / /

MedicalTreatment

low protein diet / /

MusicGroup

Acid / /

Organization

Community Health MS/MS Tandem Mass Spectrometry NBS Newborn Screening NICU Neonatal Intensive Care Unit PCP Primary Care Physician PID Primary Immunodeficiency Disorders PPV Positive Predictive Value QA Quality Assurance QAAC Quality Assurance Advisory Committee SCDAA Sickle Cell Disease Association / Child Health Epidemiology Unit / Annual Report Acronym Key Acronym Name ACMG American College of Medical Genetics CCHD Critical Congenital Heart Disease CDC Centers for Disease Control and Prevention CHM Children / University of Michigan / Services Administration MCIR Michigan Care Improvement Registry MDCH Michigan Department of Community Health MS/MS Tandem Mass Spectrometry NBS Newborn Screening NICU Neonatal Intensive Care Unit PCP Primary Care / Michigan Department of Community Health MICHIGAN NEWBORN SCREENING PROGRAM Annual Report / Health Resources and Services Administration / Hospital of Michigan CHMMC Children / Centers for Disease Control and Prevention / Hospital of Michigan Metabolic Clinic EBC Electronic Birth Certificate FIGLU Formiminoglutamic / the American College / DDS Bureau of Laboratories / Bureau of Laboratories / Community Health Director James K. Haveman Public Health Administration Deputy Director Melanie Brim Bureau of Disease Control / Prevention and Epidemiology / Michigan Department of Public Health / /

Person

Kevin Cavanagh / Mary Kleyn / Sarah Lyon Callo / James K. Haveman / Richard Allen / Melanie Brim / K. Stanley Read / Corinne Miller / Rick Snyder Michigan / Harry Hawkins / Robert Guthrie / Genomics William Young / Janice Bach / Karen Andruszewski / Sandip Shah / /

Position

plasmid calibrator / Manager / Governor / Director / Executive / Director / Chemistry and Toxicology Division / Quality Assurance Coordinator / Director / Division of Lifecourse Epidemiology and Genomics / /

Product

Penicillin / Congenital Hypothyroidism / /

ProvinceOrState

Ohio / /

PublishedMedium

the Michigan NBS Guide / /

Technology

Genomics / validated screening protocol / MS/MS technology / /

URL

www.michigan.gov/newbornscreening / www.michigan.gov/ehdi / /

SocialTag