Literature DB >> 574579

[Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)].

W Lehnert, W Schenck, H Niederhoff.   

Abstract

A case of isovaleric acidemia combined with hypertrophic pylorostenosis is described. The diagnostic procedure, the biochemical findings as well as the performed therapy are discussed. Additionally the patient was successfully operated upon a pyloromyotomy. Thus the patient suffered form two conditions which are always to be considered in terms of differential diagnosis.

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Year:  1979        PMID： 574579

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN： 0300-8630            Impact factor:   1.349


  5 in total

1.  Pyloric stenosis in a boy with non-ketotic hyperglycinaemia.

Authors:  M al-Essa; P T Ozand
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

2.  Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.

Authors:  A K Topaloglu; C Sansaricq; J E Fox; A E Bale; M Tuchman; R J Desnick
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

3.  4-hydroxyisovaleric acid: a new metabolite in isovaleric acidemia.

Authors:  W Lehnert; H Niederhoff
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

4.  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.  Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Authors:  Sarah C Grünert; Udo Wendel; Martin Lindner; Michael Leichsenring; K Otfried Schwab; Jerry Vockley; Willy Lehnert; Regina Ensenauer
Journal:  Orphanet J Rare Dis       Date:  2012-01-25       Impact factor: 4.123
  5 in total

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