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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 SHEETAdd to Reading ListSource URL: www.ncbi.nlm.nih.govDownload Document from Source WebsiteFile Size: 310,23 KBShare Document on Facebook |
American College of Medical Genetics ACT SHEET Newborn Screening ACT SheetDocID: Ri0X - View Document | |
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Biotinidase Deficiency (BlOT) (metabolic condition: organic acid disorder) Also known as: • BTD deficiency How is BlOT treated?DocID: E2ue - View Document | |
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Biotinidase Deficiency Biotinidase deficiency is an autosomal recessive inherited disorder that results in the inability to process the vitamin biotin in the normal way. Early symptoms of biotinidase deficiency generallyDocID: D0kS - View Document |