Citrullinaemia type I: A common mutation in the Pacific Island population

Journal of Paediatrics and Child Health

Volumn 47, Issue 5, 2011, Pages 262-265

  Glamuzina, Emma ^a   Marquis Nicholson, Renate ^b   Knoll, Detlef ^c   Love, Donald R ^b,c,d   Wilson, Callum ^a,c  

^a Starship Children's Hospital   (New Zealand)

^b Diagnostic Genetics ^*  (New Zealand)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

citrullinaemia; newborn screening; Pacific Island

Indexed keywords

AMMONIA; ARGININE; CITRULLINE; GLUCOSE;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CITRULLINEMIA; CLINICAL PROTOCOL; DEHYDRATION; DISEASE COURSE; FOLLOW UP; HUMAN; HYPERAMMONEMIA; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; PACIFIC ISLANDS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; URINARY TRACT INFECTION;

ARGININOSUCCINATE SYNTHASE; CITRULLINE; CITRULLINEMIA; FOUNDER EFFECT; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PACIFIC ISLANDS;

EID: 79957581682     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/j.1440-1754.2010.01948.x     Document Type: Article

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