Hyperornithinaemia-hyperammonaemiahomocitrullinuria syndrome: A treatable genetic liver disease warranting urgent diagnosis

Hong Kong Medical Journal

Volumn 20, Issue 1, 2014, Pages 63-66

  Lee, Hencher H C ^a   Poon, K H ^b   Lai, C K ^a   Au, K M ^a   Siu, T S ^c   Lai, Judy P S ^b   Mak, Chloe M ^a   Yuen, Y P ^a   Lam, C W ^d   Chan, Albert Y W ^a  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b TUEN MUN HOSPITAL   (Hong Kong)

^c QUEEN MARY HOSPITAL   (Hong Kong)

^d UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; AMMONIA; BILIRUBIN; GAMMA GLUTAMYLTRANSFERASE; AMINO ACID; AMINO ACID TRANSPORTER; ORNITHINE; SLC25A15 PROTEIN, HUMAN;

ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; DNA SEQUENCE; FOLLOW UP; GENETIC SCREENING; GLUCOSE BLOOD LEVEL; HUMAN; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; MALE; MASS FRAGMENTOGRAPHY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN JAUNDICE; PARTIAL THROMBOPLASTIN TIME; PHOTOTHERAPY; POLYMERASE CHAIN REACTION; PROTHROMBIN TIME; SPLENOMEGALY; UREA CYCLE DISORDER; BLOOD; CHILD; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; HETEROZYGOTE; HYPERAMMONEMIA; INFANT; LIVER DISEASE; NEWBORN SCREENING; PRENATAL DIAGNOSIS; PRESCHOOL CHILD;

AMINO ACID METABOLISM, INBORN ERRORS; AMMONIA; LIVER DISEASES;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACIDS; CHILD; CHILD, PRESCHOOL; HETEROZYGOTE; HUMANS; HYPERAMMONEMIA; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; ORNITHINE; PRENATAL DIAGNOSIS; UREA CYCLE DISORDERS, INBORN;

EID: 84893341567     PISSN: 10242708     EISSN: None     Source Type: Journal    
DOI: 10.12809/hkmj133826     Document Type: Article

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