Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

American Journal of Medical Genetics

Volumn 72, Issue 4, 1997, Pages 417-421

  Pang, C P ^a,d   Law, L K ^a   Mak, Y T ^a   Shek, C C ^b   Cheung, K L ^a   Mak, T W L ^a   Lam, C W ^a   Chan, A Y W ^c   Fok, T F ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^c PRINCESS MARGARET HOSPITAL   (Hong Kong)

^d CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Inherited metabolic diseases; Southern Chinese

Indexed keywords

ALPHA METHYLACETOACETYL COENZYME A THIOLASE; CARBOXYLASE; METHYLMALONIC ACID; UNCLASSIFIED DRUG;

ACIDURIA; AMINO ACID ANALYSIS; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HONG KONG; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MAPLE SYRUP URINE DISEASE; METABOLIC DISORDER; MUCOPOLYSACCHARIDOSIS; PHENYLKETONURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; URINALYSIS;

CHILD, PRESCHOOL; FEMALE; HONG KONG; HUMANS; INPATIENTS; MALE; METABOLISM, INBORN ERRORS;

EID: 0030867054     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971112)72:4<417::AID-AJMG9>3.0.CO;2-N     Document Type: Article

References (21)

1. Beaudet AL, Scriver CR, Sly WS, Valle D (1995): Genetics, biochemistry, and molecular basis of variant human phenotypes. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Basis of Inherited Disease," 7th Ed. New York: McGraw-Hill, pp 53-118.
2. Chalmers RA, Lawson AM (1982): "Organic acids in man: Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias." London: Chapman and Hall.
3. Chen RG, Pan XS, Qian DL, Guo H (1989): Twenty-one cases of phenylketonuria out of 358,767 new-borns in Shanghai, China. J Inherit Metab Dis 12:485.
4. Davies DP (1992): Paediatric illness in Hong Kong and Britain. Arch Dis Child 67:543-549.
5. Feng KP, Chow KW, Chan YP (1986): Maple syrup urine disease in Chinese. Chin Med J 99:119-120.
6. Galjaard H (1980): "Genetic Metabolic Diseases: Early Diagnosis and Prenatal Analysis." Amsterdam: Elsevier North-Holland.
7. Hsiao KJ (1992): Genetic disorders and neonatal screening. In Miyai K, Kanno T, Ishikawa E (eds): "Progress in Clinical Biochemistry." Amsterdam: Elsevier Science Publishers.
8. Kaur M, Das GP, Verma IC (1994): Inborn errors of amino acid metabolism in North India. J Inher Metab Dis 17:230-233.
9. Liu SR, Zuo QH (1986): Newborn screening for phenylketonuria in eleven districts. Chin Med J 99:113-118.
10. Lo WHY (1987): Genetic diseases in China: Some epidemiological features. Hum Genet 77:569-577.
11. McKusick VA ( 1994): "Mendelian Inheritance in Man," 11th Ed. Baltimore: Johns Hopkins University Press.
12. Pang CCP, Chan AKH, Poon PMK, Lai VCH, Mak YT, Tse PWT, Chan KY, Lau CH, Robertshaw AM, Shek ACC, Lam STS (1994): Inborn errors of metabolism in children with mental retardation. HK J Paediatr 11: 133-138.
13. Pang CP, Ng CF (1987): Maple syrup urine disease in Hong Kong. Aust Paediatr J 23:205.
14. Rao NA, Devi ARR, Savithri HS, Rao SV, Bittles AH (1988): Neonatal screening for amino acidemias in Karnataka, South India. Clin Genet 34:60-63.
15. Tada K, Tateda H, Arashima S, Sakai K, Kitagawa K, Aoki K, Suwa S, Kawamura M, Oura T, Takesada M, Kuroda Y, Yamashita F, Matsuda I, Naruse H (1984): Follow-up study of a nation-wide neonatal metabolic screening program in Japan. Eur J Pediatr 142:204-207.
16. Tan IK, Chio LF, Loh FC, Wee SC, Ng I, Teo SH, Yong YP, Chan D, Chow WC, Ho PS, Lim KW, Goh A, Pratibha A, Kumar P, Wong YS (1995): Inborn errors of metabolism in Singapore. J Inner Metab Dis 18:341-346.
17. Van Eijk HMH, van der Heijden AH, van Berlo CLH, Soeters PB (1988): Fully automated liquid chromatographic determination of amino acids. Clin Chem 34:2510-2513.
18. Wang T, Okano Y, Eisensmith RC, Harvey ML, Lo WHY, Huang S-Z, Zeng Y-T, Yuan L-F, Furuyama J-I, Oura T, Sommer SS, Woo SLC (1991): Founder effect of a prevalent phenylketonuria mutation in the Oriental population. Proc Natl Acad Sci USA 88:2146-2150.
19. Wong HB (1978): Phenylketonuria in Chinese in Singapore. J Sing Paediatr Soc 20:69-73.
20. Zhao T, Lee TD (1989): Gm and Km allotypes in 74 Chinese populations:a hypothesis of the origin of the Chinese nation. Hum Genet 83:101-110.
21. Zhou ZL (1995): Recent advances of perinatal medicine in China. Chin Med J 108:387-389.