Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: A case report

JIMD Reports

Volumn 10, Issue , 2013, Pages 53-56

  Coughlin, Curtis R ^a,b   Hyland, Keith ^c   Randall, Rebecca ^d   Ficicioglu, Can ^a,d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c Medical Neurogenetics   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Dihydropteridine reductase; Folinic acid; Phenylalanine level; Plasma phenylalanine; Sapropterin dihydrochloride

Indexed keywords

EID: 84929465118     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_202     Document Type: Chapter

References (12)

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