Tetrahydrobiopterin responsiveness: Results of the BH 4 loading test in 31 Spanish PKU patients and correlation with their genotype

Molecular Genetics and Metabolism

Volumn 83, Issue 1-2, 2004, Pages 157-162

  Desviat, Lourdes R ^a   Pérez, Belén ^a   Bèlanger Quintana, Amaya ^b   Castro, Margarita ^a   Aguado, Cristina ^a   Sánchez, Ascensión ^a   García, Maria José ^a   Martínez Pardo, Mercedes ^b   Ugarte, Magdalena ^a  

^a CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

Author keywords

BH 4 loading test; BH 4 responsiveness; Hyperphenylalaninemia; Phenylketonuria; PKU; PKU mutation; Tetrahydrobiopterin

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; ASPARTIC ACID; GLUTAMIC ACID; LEUCINE; SERINE; TETRAHYDROBIOPTERIN; VALINE; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE; PHENYLALANINE 4 MONOOXYGENASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; DRUG RESPONSE; ETHNIC GROUP; FEMALE; GENE EXPRESSION; GENETIC ANALYSIS; GENOTYPE; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LOADING TEST; MALE; MUTATION; PATIENT; PHENYLKETONURIA; PRIORITY JOURNAL; RNA SPLICING; ADOLESCENT; BREATH ANALYSIS; GENETICS; HOMOZYGOTE; METHODOLOGY; PILOT STUDY; PRESCHOOL CHILD; SPAIN;

ADOLESCENT; ADULT; BIOPTERIN; BREATH TESTS; CHILD; CHILD, PRESCHOOL; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PILOT PROJECTS; SPAIN;

EID: 4744358646     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.06.007     Document Type: Article

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