Literature DB >> 7474902

Inborn errors of metabolism in Singapore.

I K Tan1, L F Chio, F C Loh, S C Wee, I Ng, S H Teo, Y P Yong, D Chan, W C Chow, P S Ho.   

Abstract

Between 1992 and 1994 the Paediatric Metabolic Centre screened 403 patients for inherited metabolic disease. Seventeen patients were diagnosed, including 7 with organic acidurias, 5 with mucopolysaccharidoses, 2 with amino acid disorders, 2 with carbohydrate disorders and 1 with hyperlipidaemia. The ethnic distribution of disorders in Singapore is compared with incidences reported by others in this part of the world. It is likely that further studies will indicate which diagnostic or screening tests would best serve this community.

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Year:  1995        PMID: 7474902     DOI: 10.1007/bf00710426

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  7 in total

1.  Screening for inherited metabolic diseases and congenital hypothyroidism in 4,744 mentally retarded school children in Taiwan.

Authors:  K D Wuu; K J Hsiao; C H Chen; T S Hsiao; C Y Chang; Y K Chu
Journal:  Jinrui Idengaku Zasshi       Date:  1988-03

2.  Determination of alpha-keto acids as silylated oximes in urine and serum by combined gas chromatography-mass spectrometry.

Authors:  H J Sternowsky; J Roboz; F Hutterer; G Gaull
Journal:  Clin Chim Acta       Date:  1973-09-14       Impact factor: 3.786

3.  High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses.

Authors:  J J Hopwood; J R Harrison
Journal:  Anal Biochem       Date:  1982-01-01       Impact factor: 3.365

4.  Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

Authors:  E Beutler; M C Baluda
Journal:  Clin Chim Acta       Date:  1966-03       Impact factor: 3.786

5.  Inborn errors of amino acid metabolism in north India.

Authors:  M Kaur; G P Das; I C Verma
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  Chromosomal and biochemical screening on mentally retarded school children in Taiwan.

Authors:  K D Wuu; P C Chiu; S Y Li; J Y Chen; M C Chao; F J Ko; T R Wang; K J Hsiao
Journal:  Jinrui Idengaku Zasshi       Date:  1991-09

7.  Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion.

Authors:  C B Whitley; M D Ridnour; K A Draper; C M Dutton; J P Neglia
Journal:  Clin Chem       Date:  1989-03       Impact factor: 8.327

  7 in total

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