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

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

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

A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling

1983 ◽  
Vol 6 (3) ◽  
pp. 85-88 ◽  
Author(s):  
A. Tsuchiyama ◽  
K. Oyanagi ◽  
S. Hirano ◽  
N. Tachi ◽  
H. Sogawa ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pyruvate Carboxylase ◽  
Unaffected Sibling ◽  
Pyruvate Carboxylase Deficiency

A Patient with Pyruvate Carboxylase Deficiency in the Liver: Treatment with Aspartic Acid and Thiamine

2008 ◽  
Vol 23 (5) ◽  
pp. 521-530 ◽  
Author(s):  
M. G. Baal ◽  
F. J. M. Gabreëls ◽  
W. O. Renter ◽  
F. A. Hommes ◽  
Th. H. J. Gijsbers ◽  
...  
Keyword(s):  
Aspartic Acid ◽  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency

scholarly journals Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations

1998 ◽  
Vol 62 (6) ◽  
pp. 1312-1319 ◽  
Author(s):  
Mary Anna Carbone ◽  
Nevi MacKay ◽  
Mingfu Ling ◽  
David E.C. Cole ◽  
Cheryl Douglas ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Missense Mutations ◽  
Pyruvate Carboxylase Deficiency
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