Literature DB >> 541412

Gas chromatography of urinary N-phenylacetylglutamine.

J P Kamerling, M Brouwer, D Ketting, S K Wadman.   

Abstract

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Year:  1979        PMID： 541412     DOI： 10.1016/s0378-4347(00)81190-1

Source DB:  PubMed          Journal:  J Chromatogr


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  5 in total

1.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

Authors:  F A Beemer; K Bartlett; M Duran; H K Ghneim; S K Wadman; L Bruinvis; D Ketting
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

2.  Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Authors:  R B Schutgens; B Middleton; J F vd Blij; J W Oorthuys; H A Veder; T Vulsma; W H Tegelaers
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

3.  Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis.

Authors:  H D Bakker; H R Scholte; J A Jeneson; H F Busch; N G Abeling; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

Authors:  M Duran; J B de Klerk; S K Wadman; H R Scholte; R P Beekman; F G Jennekens
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

5.  Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.

Authors:  M Duran; L Bruinvis; D Ketting; S K Wadman; B C van Pelt; A M Batenburg-Plenter
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982
  5 in total

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