Literature DB >> 168149

Hypersarcosinemia with craniostenosis-syndactylism syndrome.

R Minami, K Olek, P Wardenbach.   

Abstract

Hypersarcosinemia with craniostenosis-syndactylism syndrome. After a sarcosine loading the sarcosine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosine tolerance curves.

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Year:  1975        PMID： 168149     DOI： 10.1007/bf00735751

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  5 in total

1.  The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency.

Authors:  P Tippett; D M Danks
Journal:  Helv Paediatr Acta       Date:  1974-08

2.  Clinical and cellular studies of sarcosinemia.

Authors:  C R Scott; S H Clark; C C Teng; K R Swedberg
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

3.  Sarcosine dehydrogenase deficiency, the enzyme defect in hypersarcosinemia.

Authors:  T Gerritsen
Journal:  Helv Paediatr Acta       Date:  1972-04

4.  Hypersarcosinemia: an inborn error of metabolism.

Authors:  T Gerritsen; H A Waisman
Journal:  N Engl J Med       Date:  1966-07-14       Impact factor: 91.245

5.  Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes.

Authors:  F H Glorieux; C R Scriver; E Delvin; F Mohyuddin
Journal:  J Clin Invest       Date:  1971-11       Impact factor: 14.808
  5 in total
  3 in total

1.  Sarcosinaemia in a retarded, amaurotic child.

Authors:  A C Sewell; M Krille; I Wilhelm
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

2.  sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis.

Authors:  C O Harding; P Williams; D M Pflanzer; R E Colwell; P W Lyne; J A Wolff
Journal:  Proc Natl Acad Sci U S A       Date:  1992-04-01       Impact factor: 11.205

3.  Variability in the phenotypic expression of abnormal sarcosine metabolism in a family.

Authors:  E S Kang; J Seyer; T A Todd; C Herrera
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
  3 in total

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