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Adrenal gland disorders / Intersexuality / Deafness / Mental retardation / Congenital adrenal hyperplasia due to 21-hydroxylase deficiency / Congenital adrenal hyperplasia / Newborn screening / Biotinidase deficiency / Congenital hearing loss / Health / Medicine / Pediatrics


TECHNICAL REPORT Newborn Screening Fact Sheets Celia I. Kaye, MD, PhD, and the Committee on Genetics Abbreviations: OMIM, Online Mendelian Inheritance in Man; MS/MS, tandem mass spectrometry; CoA, coenzyme A; BTD, bioti
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Document Date: 2010-07-29 16:02:48

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City

Oxford / Seattle / Rockville / New York / Washington / DC / Morton / Atlanta / /

Company

CBS / acyl-CoA / McGraw-Hill / Agency for Healthcare Research / BCKA / BCKD / Disease Management / Leshner RT. / Wolf B. Worldwide / ESPE CAH Working Group / /

Continent

Europe / North America / /

Country

Netherlands / Japan / Canada / Saudi Arabia / New Zealand / United States / /

Facility

American College of Medical Genetics / B complex / HLA complex / /

IndustryTerm

Online Mendelian Inheritance / normal energy / biotin-containing products / universal newborn hearing screening protocols / affected systems / Qualified interpreting services / distortion product / treatment of the disorder / data management / computerized equipment / /

MedicalCondition

related illness / congenital adrenal hyperplasia / atopic dermatitis / iodine deficiency / ketolactic acidosis / seizures / cortisol deficiency / 21hydroxylase deficiency / galactosemia / bilateral optic neuropathy / Inheritance Biotinidase deficiency / scotoma / recognizable syndrome / genetic deafness / permanent congenital hearing loss / syndromic deafness / learning disabilities / disorder / autosomal recessive congenital nonsyndromic hearing impairment / skin manifestations / hirsutism / diarrhea / thyroid dysgenesis / Graves’ disease / phenylketonuria / sudden infant death syndrome / Newborn Screening Biotinidase deficiency / Schrijver I. Hereditary non-syndromic sensorineural hearing loss / congenital nonsyndromic hearing impairment / congenital profound autosomal recessive congenital nonsyndromic hearing impairment / homocystinuria / BTD causing biotinidase deficiency / infertility / thereby averting shock / complete alopecia / ADHD / Partial BTD deficiency / mental retardation / classic congenital adrenal hyperplasia / umbilical hernia / appropriate disorder / hypothyroidism / syndromic hearing loss / genetic disorder / preterm birth / Hereditary Hearing Loss / partial deficiency / excessive acne / lethargy / SIDS / macroglossia / viral infections / OH deficiency / vomiting / serious hearing impairment / Inherited Disease / rubella / endemic cretinism / midline cleft lip / dehydrogenase deficiency / PKU / late-onset multiple carboxylase deficiency / brain myxedema / menstrual disorder / hypotonia / deficiency / neurologic findings / Permanent brain injury / Delayed-onset profound biotinidase deficiency / CONGENITAL HYPOTHYROIDISM Thyroid hormone deficiency / reversible progressive ataxia / mild deficiency / partial biotinidase deficiency / recognized syndrome / disorders / Down syndrome / profound deficiency / optic atrophy / profound biotinidase deficiency / Hereditary hearing loss homepage / true-precocious puberty / Clinical Manifestations Biotinidase deficiency / profound deficiency present / milder disorder / profound prelingual deafness / congenital hearing loss / nonsyndromic hearing loss / sensorineural hearing loss / deficiency CAH / inherited disorders / hemiparesis / deafness / congenital hearing impairment / tyrosinemia / obesity / secondary hypothyroidism / maternal autoimmune thyroid disease / likely transient hypothyroidism / associated sensorineural deafness / autosomal recessive disorder / cystic fibrosis / permanent hearing loss / MS / myoclonic seizures / hearing loss / congenital adrenal hyperplasia using / neurologic symptoms / hearing impairment / congenital adrenal hyperplasia frequency / attention-deficit/hyperactivity disorder / hemoglobinopathies / ataxia / nonsyndromic hearing impairment / sensorineural deafness / hypopituitary hypothyroidism / acne / fine motor incoordination / disease / transient hypothyroidism / gastroenteritis / acoustic trauma / shock / congenital hypothyroidism / bilateral hearing loss / significant sensorineural hearing loss / syndromal hearing loss / profound hearing loss / speech disorders / subclinical hypothyroidism / goiter / sickle cell disease / strabismus / BIOTINIDASE DEFICIENCY Biotinidase deficiency / biotinidase deficiency / aldosterone deficiency / maple syrup urine disease / autoimmune thyroiditis / syndrome / dehydration / /

MedicalTreatment

auditory stimulation / total parenteral nutrition / counseling / drug therapy / /

Organization

American College of Medical Genetics / state health department / office of Disease Prevention and Health Promotion / AMERICAN ACADEMY OF PEDIATRICS Incidence Congenital / US Preventive Services Task Force / National Center for Hearing Assessment and Management / Committee on Genetics Abbreviations / European Society for Pediatric Endocrinology / Pediatrics Committee on Genetics / European Pediatric Endocrine Society / US Lawson Wilkins Pediatric Endocrine Society / Newborn Screening Task Force / National Center for Biotechnology Information / United Nations / American Academy / American Academy of Pediatrics / Agency for Healthcare Research and Quality / /

Person

Arch Dis / Ann Neurol / Gleason T. Hearing / Celia I. Kaye / Ann Deaf / Van Baarle / Secor McVoy JR / Diagnostic Testing Infants / Wolf B. Disorders / Controversies As / Clark A. Congenital / Van Naarden / Ann N Y Acad Sci / /

Position

care physician / Moeller MP / Hb / pediatrician / qualified audiologist / /

Product

pseudo / technetium / Florinef / ACTH / thyroglobulin / dexamethasone / levothyroxine sodium / nitro / /

ProgrammingLanguage

L / /

ProvinceOrState

Alaska / Texas / /

RadioStation

CFTR / /

Region

western Alaska / /

Technology

3 universal newborn hearing screening protocols / genotyping / OAE technology / Genotype / recombination / alpha / speech recognition / Biotechnology / ultrasound / /

URL

www.pediatrics.org/cgi/content/full/106 / www.pediatrics.org/cgi/doi/10.1542 / www.infanthearing.org / www.ncbi.nlm.nih.gov/entrez/query.fcgi?db⫽OMIM / www.pediatrics.org/cgi/content / http /

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