Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

2009 ◽  
Vol 30 (5) ◽  
pp. 734-740 ◽  
Author(s):  
Sophie Monnot ◽  
Val��rie Serre ◽  
Bernadette Chadefaux-Vekemans ◽  
Joelle Aupetit ◽  
St��phane Romano ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Novel Mutations ◽  
Pyruvate Carboxylase Deficiency ◽  
Structural Insights ◽  
Pathogenic Effects

scholarly journals Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

2012 ◽  
pp. 1-5 ◽  
Author(s):  
Elsebet Ostergaard ◽  
Morten Duno ◽  
Lisbeth Birk Møller ◽  
H. Serap Kalkanoglu-Sivri ◽  
Ali Dursun ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Type B ◽  
Novel Mutations ◽  
Pyruvate Carboxylase Deficiency

MRI, Clinical, and Biochemical Features of Partial Pyruvate Carboxylase Deficiency

1994 ◽  
Vol 9 (4) ◽  
pp. 436-439 ◽  
Author(s):  
Joseph J. Higgins ◽  
Allen M. Glasgow ◽  
Marilyn Lusk ◽  
Douglas S. Kerr
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency ◽  
Biochemical Features

scholarly journals The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival

2008 ◽  
Vol 95 (1-2) ◽  
pp. 31-38 ◽  
Author(s):  
Dong Wang ◽  
Hong Yang ◽  
Kevin C. De Braganca ◽  
Jiesheng Lu ◽  
Ling Yu Shih ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Pyruvate Carboxylase ◽  
Prolonged Survival ◽  
Pyruvate Carboxylase Deficiency

scholarly journals SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

2011 ◽  
Vol 32 (7) ◽  
pp. 760-772 ◽  
Author(s):  
Francesca Lepri ◽  
Alessandro De Luca ◽  
Lorenzo Stella ◽  
Cesare Rossi ◽  
Giuseppina Baldassarre ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Molecular Spectrum ◽  
Structural Insights ◽  
Pathogenic Effects

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

2012 ◽  
Vol 28 (11) ◽  
pp. 1505-1508 ◽  
Author(s):  
Ozlem Unal ◽  
Diclehan Orhan ◽  
Elsebet Ostergaard ◽  
Aysegul Tokatli ◽  
Ali Dursun ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency ◽  
Nemaline Rods

Pyruvate Carboxylase Deficiency

2009 ◽  
pp. 1798-1800
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency

Pyruvate Carboxylase Deficiency

1984 ◽  
pp. 74-78
Author(s):  
K. Bartlett ◽  
H. K. Ghneim ◽  
J.-H. Stirk ◽  
G. Dale ◽  
K. G. M. M. Alberti
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency

Pyruvate carboxylase deficiency in twins

1986 ◽  
Vol 9 (1) ◽  
pp. 29-30 ◽  
Author(s):  
M. A. Pollock ◽  
M. Cumberbatch ◽  
M. J. Bennett ◽  
R. G. F. Gray ◽  
M. Brand ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency
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