Literature DB >> 10070622

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

A K Topaloglu1, C Sansaricq, J E Fox, A E Bale, M Tuchman, R J Desnick.   

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Year:  1999        PMID: 10070622     DOI: 10.1023/a:1005411601985

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


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  7 in total

1.  Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

Authors:  M Tuchman; H Morizono; B S Rajagopal; R J Plante; N M Allewell
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

2.  [Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)].

Authors:  W Lehnert; A Junker; H Wehinger; H G Zöberlein; R Baumgartner; H H Ropers
Journal:  Monatsschr Kinderheilkd       Date:  1980-11       Impact factor: 0.323

3.  Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.

Authors:  A Hamosh; J W McDonald; D Valle; C A Francomano; E Niedermeyer; M V Johnston
Journal:  J Pediatr       Date:  1992-07       Impact factor: 4.406

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

Authors:  W Lehnert; W Schenck; H Niederhoff
Journal:  Klin Padiatr       Date:  1979-09       Impact factor: 1.349

5.  Pyloric stenosis: congenital or acquired?

Authors:  M D Rollins; M D Shields; R J Quinn; M A Wooldridge
Journal:  Arch Dis Child       Date:  1989-01       Impact factor: 3.791

6.  The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.

Authors:  M Tuchman; H Morizono; O Reish; X Yuan; N M Allewell
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

7.  Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia.

Authors:  E Zammarchi; M A Donati; F Ciani; E Pasquini; I Pela; P Fiorini
Journal:  Neuropediatrics       Date:  1994-10       Impact factor: 1.947

  7 in total

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