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Genodermatoses / Holocarboxylase synthetase deficiency / Multiple carboxylase deficiency / 3-Methylcrotonyl-CoA carboxylase deficiency / Newborn screening / Biotinidase deficiency / 3-hydroxy-3-methylglutaryl-CoA lyase deficiency / Biotin / Medical genetics / Medicine / Health / Pediatrics


American College of Medical Genetics ACT SHEET Newborn Screening ACT Sheet
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Document Date: 2012-11-09 11:16:32

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File Size: 332,17 KB

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Facility

American College of Medical Genetics ACT SHEET Newborn Screening ACT Sheet / American College of Medical Genetics ACT SHEET LOCAL/STATE RESOURCES / /

IndustryTerm

servlet / newborn screening program web site / /

MedicalCondition

holocarboxylase synthetase deficiency / ß-ketothiolase deficiency / CoA lyase deficiency / β-Ketothiolase deficiency / episodic hypoglycemia / metabolic acidosis / HMG CoA lyase deficiency / 3MCC deficiency / lethargy / vomiting / ketonuria / metabolic acidosis / X HMG-CoA lyase deficiency X - X / hypotonia / deficiency / multiple carboxylase deficiency / biotinidase deficiency / hypoglycemia / disorders / /

MedicalTreatment

emergency treatment / /

Organization

American College of Medical Genetics ACT SHEET Newborn Screening ACT Sheet / American College of Medical Genetics ACT SHEET LOCAL/STATE RESOURCES / /

Person

Gene Reviews Genetics / Gene Reviews / /

Position

pediatric metabolic specialist / metabolic specialist / /

Technology

Genomics / Diagnosis Emergency Treatment Protocol / html / Emergency Treatment Protocol / /

URL

http /

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