Biotinidase deficiency: The two faces of metabolic screening;Déficit de biotinidasa: las dos caras del cribado metabólico

Medicina Clinica

Volumn 137, Issue 11, 2011, Pages 497-499

  Pintos Morell, Guillem ^a  

^a HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE DEFICIENCY; EDITORIAL; METABOLIC PARAMETERS; METABOLIC SCREENING; SCREENING TEST;

EID: 80053629732     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2011.05.007     Document Type: Article

References (12)

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5. K.J. Norrgard, K.L. Swango, and B. Wolf Mutation (D444H) in the biotinidase gene causes approximately 50% loss of enzyme activity and is common in the general population Am J Hum Genet 59 Suppl 1996 A275
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10. B. Wolf Clinical issues and frequent questions about biotinidase deficiency Mol Genet Metab 100 2010 6 13
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