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Medicine / Biotinidase / Rare diseases / Biotin / Newborn screening / Biotin deficiency / 3-Methylcrotonyl-CoA carboxylase deficiency / Health / Genetics / Biotinidase deficiency


Newborn Screening for Biotinidase Deficiency
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Document Date: 2012-02-06 15:23:10

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File Size: 39,36 KB

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City

Austin / /

Company

Biotinidase Family Support Group / /

/

IndustryTerm

unaffected carrier child / carrier parents / food / /

MedicalCondition

seizures / metabolic disease / Biotinidase deficiency / development ataxia / coma / hearing loss / /

Organization

Kansas Newborn Screening Lab / National Newborn Screening and Genetics Resource Center / /

/

Position

metabolic specialist and their pediatrician / metabolic disease specialist / /

ProvinceOrState

Texas / /

URL

www.biotinidasedeficiency.20m.com / www.genetests.org / www.ccmckids.org/research/Biotinidase/Biotinidase_Deficiency_Booklet.pdf / /

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