Literature DB >> 6798542

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.

F X Coude, H Ogier, C Marsac, A Munnich, C Charpentier, J M Saudubray.   

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Year:  1981        PMID： 6798542

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  13 in total

1.  Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.

Authors:  Ruby Haviv; Avraham Zeharia; Corinne Belaiche; Yishai Haimi Cohen; Ann Saada
Journal:  Eur J Pediatr       Date:  2013-08-31       Impact factor: 3.183

2.  The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Authors:  Dong Wang; Hong Yang; Kevin C De Braganca; Jiesheng Lu; Ling Yu Shih; Paz Briones; Tim Lang; Darryl C De Vivo
Journal:  Mol Genet Metab       Date:  2008-08-03       Impact factor: 4.797

3.  Pyruvate carboxylase deficiency in twins.

Authors:  M A Pollock; M Cumberbatch; M J Bennett; R G Gray; M Brand; K Hyland; P J Congdon; T Pitts-Tucker; S Gray
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.

Authors:  G K Brown; R D Scholem; S M Hunt; J R Harrison; A C Pollard
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 5.  Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.

Authors:  F Poggi-Travert; D Martin; T Billette de Villemeur; J P Bonnefont; A Vassault; D Rabier; C Charpentier; P Kamoun; A Munnich; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

6.  The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Authors:  B H Robinson; J Oei; W G Sherwood; D Applegarth; L Wong; J Haworth; P Goodyer; R Casey; L A Zaleski
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

7.  Pyruvate carboxylase deficiency.

Authors:  K Bartlett; H K Ghneim; J H Stirk; G Dale; K G Alberti
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Lactic acidaemia.

Authors:  B H Robinson; W G Sherwood
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

9.  Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.

Authors:  R A Chalmers
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  A case of transient neonatal citrullinemia.

Authors:  A Ohtake; M Takayanagi; N Ogura; H Nakajima
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183
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