Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong

Clinical Biochemistry

Volumn 46, Issue 1-2, 2013, Pages 155-159

  Mak, Chloe Miu ^a,b   Lam, Ching wan ^c   Chim, Stella ^b   Siu, Tak shing ^b   Ng, King fai ^b   Tam, Sidney ^b  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b QUEEN MARY HOSPITAL   (Hong Kong)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Expanded newborn screening; FAH gene; Hong Kong Chinese; Inborn errors of metabolism; Novel mutation; Tyrosinemia type I

Indexed keywords

4 HYDROXYPHENYLACETIC ACID; ANTIBIOTIC AGENT; METHIONINE; N ACETYLTYROSINE; PHENYLALANINE; SUCCINYLACETONE; TYROSINE;

ABDOMINAL DISTENSION; AMINO ACID BLOOD LEVEL; ANTIBIOTIC THERAPY; ARTICLE; BRAIN ATROPHY; CASE REPORT; CHINESE; DEVELOPMENTAL DISORDER; END STAGE LIVER DISEASE; ENTEROBACTERIACEAE INFECTION; FAH GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEPATIC ENCEPHALOPATHY; HONG KONG; HUMAN; HYPOGLYCEMIA; HYPOXIC ISCHEMIC ENCEPHALOPATHY; ILEUS; INFANT; INTESTINE VOLVULUS; INTOXICATION; LIVER TRANSPLANTATION; LIVING DONOR; MALE; METABOLIC DISORDER; MOLECULAR DIAGNOSIS; NEWBORN SCREENING; NONHUMAN; NUCLEOTIDE SEQUENCE; PERITONITIS; PRIORITY JOURNAL; SEPSIS; TYROSINEMIA; VISUAL IMPAIRMENT;

HONG KONG; HUMANS; HYDROLASES; INFANT; INFANT, NEWBORN; LIVER FAILURE; MALE; MUTATION; NEONATAL SCREENING; TYROSINEMIAS;

EID: 84871806486     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2012.09.010     Document Type: Article

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