Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: Is genotype a predictor of response?

JIMD Reports

Volumn 5, Issue , 2012, Pages 59-70

  Sarkissian, Christineh N ^a,b   Gamez, Alejandra ^c   Scott, Patrick ^a   Dauvillier, Jerome ^d   Dorenbaum, Alejandro ^e   Scriver, Charles R ^a,b   Stevens, Raymond C ^f  

^a MCGILL UNIVERSITY   (Canada)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d MERCK SERONO S A   (Switzerland)

^e BIOMARIN PHARMACEUTICAL INC   (United States)

^f SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Hemizygous genotype; Responsive allele; Responsive mutation; Sapropterin dihydrochloride; Sapropterin treatment

Indexed keywords

EID: 84866152937     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_96     Document Type: Chapter

References (52)

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