Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome

Pediatrics International

Volumn 53, Issue 6, 2011, Pages 985-989

  Couce, Maria Luz ^a   Dalmau, Jaime ^b   Del Toro, Mireia ^c   Pintos Morell, Guillem ^d   Aldámiz Echevarría, Luís ^e  

^a University Hospital of Santiago de Compostela   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e HOSPITAL DE CRUCES   (Spain)

Author keywords

acute liver failure; genotype phenotype correlation; hereditary tyrosinemia type 1; mutations; nitisinone

Indexed keywords

ALPHA FETOPROTEIN; NITISINONE;

ACUTE LIVER FAILURE; ARTICLE; BLOOD CLOTTING DISORDER; CHILD; CLINICAL ARTICLE; DIET; DRUG EFFICACY; EYE COLOR; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEPATOMEGALY; HEREDITARY TYROSINEMIA TYPE 1; HUMAN; KIDNEY CALCIFICATION; KIDNEY TUBULE DISORDER; LIVER TRANSPLANTATION; LONG TERM CARE; MALE; OCULAR PRURITUS; PATIENT COMPLIANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RARE DISEASE; RED EYE; SCHOOL CHILD; SIDE EFFECT; SPAIN; TREATMENT DURATION; TREATMENT OUTCOME; TYROSINEMIA;

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; CHILD; CHILD, PRESCHOOL; CYCLOHEXANONES; DNA; DNA MUTATIONAL ANALYSIS; ENZYME INHIBITORS; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INCIDENCE; MALE; MUTATION; NITROBENZOATES; RETROSPECTIVE STUDIES; SPAIN; TIME FACTORS; TREATMENT OUTCOME; TYROSINE; TYROSINEMIAS;

EID: 84255184201     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2011.03427.x     Document Type: Article

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