Experience with hyperphenylalaninemia in a developing country: Unusual clinical manifestations and a novel gene mutation

Journal of Child Neurology

Volumn 26, Issue 2, 2011, Pages 142-146

  Karam, Pascale E ^a   Daher, Rose T ^a   Moller, Lisbeth B ^b   Mikati, Mohamad A ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^b Kennedy Center   (Denmark)

Author keywords

dihydropteridine reductase deficiency; hyperphenylalaninemia; keratomalacia; Lennox Gastaut syndrome; phenylketonuria

Indexed keywords

BIOPTERIN; DIHYDROPTERIDINE REDUCTASE;

ARTICLE; BIOPTERIN METABOLISM DEFECT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPING COUNTRY; DIHYDROPTERIDINE REDUCTASE DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HYPERPHENYLALANINEMIA; LENNOX GASTAUT SYNDROME; MALE; METABOLIC DISORDER; NEWBORN SCREENING; PHENYLKETONURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TERTIARY HEALTH CARE; WHITE MATTER;

CHILD, PRESCHOOL; DIHYDROPTERIDINE REDUCTASE; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LEBANON; MALE; NEONATAL SCREENING; PHENYLKETONURIAS;

EID: 79551635264     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810375116     Document Type: Article

References (9)

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