Galactosaemia in Chinese

Journal of Paediatrics and Child Health

Volumn 35, Issue 4, 1999, Pages 339-440

  Kahler, S G ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHINESE; CONGENITAL DISORDER OF GLYCOSYLATION; EDITORIAL; FOUNDER EFFECT; GALACTOSEMIA; GAUCHER DISEASE; GENETIC POLYMORPHISM; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; MUCOLIPIDOSIS; NIEMANN PICK DISEASE; PHENYLKETONURIA; PRIORITY JOURNAL; TAY SACHS DISEASE; TYROSINEMIA;

EID: 0032837765     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.1999.00421.x     Document Type: Editorial

References (16)

1. 1 Cheung KL, Tang NLS, Hsiao KJ et al. Classical galactosaemia in Chinese; a case report and review of disease incidence. Journal of Paediatrics and Child Health 1999 ; 35: 339 ‐400.
2. 2 Scriver CR, Kaufman S, Eisensmith RC, Woo SLC. The Hyperphenylalaninemias. In Scriver CR, Beaudet AL, Sly WS, Valle D eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw‐Hill, New York, 1997.
3. 3 Zlotogora J. Selection for carriers of recessive diseases: A common phenomenon? Am. J. Med. Genet. 1998 ; 80: 266–8.
4. 4 Rotter JI & Diamond JM. What maintains the frequencies of human genetic diseases? Nature 1987 ; 329: 289.
5. 5 Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999 ; 281: 249–54.
6. 6 Beutler E, Baluda MC, Sturgeon P, Day RW. The genetics of galactose‐1‐phosphate uridyltransferase deficiency. J. Lab. Clin. Med. 1966 ; 68: 646.
7. 7 Mellman WJ, Tedesco TA, Feigl P. Estimation of the gene frequency of the Duarte variant of galactose‐1‐phosphate uridyl transferase. Am. J. Hum. Genet. 1968 ; 32: 1.
8. 8 Marshall L & DiGeorge A. Maple syrup urine disease in the old order Mennonites. Am. J. Hum. Genet. 1981 ; 33: 139 A.
9. 9 Fisher CR, Fisher CW, Chuang DT, Cox RP. Occurrence of a Tyr393‐> Asn (Y393N) mutation in the E1a gene of the branched‐chain a‐keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. Am. J. Hum. Genet. 1991 ; 49: 429.
10. 10 Naylor EW. Newborn screening for maple syrup urine disease (branched‐chain ketoaciduria). In Bickel H, Guthrie R, Hammersen G eds. Neonatal Screening for Inborn Errors of Metabolism. Springer‐Verlag, Berlin, 1980; 19–28.
11. 11 De Braekeleer M & Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay‐Lac‐St‐Jean. Am. J. Hum. Genet. 1990 ; 47: 302.
12. 12 Syvänen A‐C, Ikonen E, Manninen T et al. Convenient and quantitative determination of the frequency of a mutant allele using solid‐phase minisequencing: Application to aspartylglucosaminuria in Finland. Genomics 1992 ; 12: 590.
13. 13 Simmell O. Lysinuric protein intolerance and other cationic aminoacidurias. In Scriver CR, Beaudet AL, Sly WS, Valle D eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw‐Hill, New York, 1997.
14. 14 Von Wendt L, Hirvasniemi A, Similä S. Nonketotic hyper‐ glycinemia: A genetic study of 13 Finnish families. Clin. Genet. 1979 ; 15: 411.
15. 15 Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type I. A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am. J. Med. Genet. 1991 ; 41: 89.
16. 16 Haworth JC, Booth FA, Chudley AE et al. Phenotypic variability in glutaric aciduria type I. Report of fourteen cases in five Canadian Indian kindreds. J. Pediatr. 1991 ; 118: 52.