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Genes / Pediatrics / Multiple carboxylase deficiency / Newborn screening / Biotinidase deficiency / Holocarboxylase synthetase deficiency / 3-Methylcrotonyl-CoA carboxylase deficiency / Medical genetics / Biotin / Medicine / Health / Genetics


American College of Medical Genetics ACT SHEET
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Facility

Clinical American College of Medical Genetics / American College of Medical Genetics ACT SHEET Newborn Screening ACT Sheet / American College of Medical Genetics / ofAmerican College / 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 / hypotonia / deficiency / multiple carboxylase deficiency / biotinidase deficiency / hypoglycemia / disorders / /

MedicalTreatment

emergency treatment / /

Organization

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

Person

Gene Reviews Genetics / Gene Reviews / /

Position

pediatric metabolic specialist / metabolic specialist / /

Technology

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

URL

http /

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