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

Prenatal diagnosis of pyruvate carboxylase deficiency

1982 ◽  
Vol 119 (1-2) ◽  
pp. 121-127 ◽  
Author(s):  
C. Marsac ◽  
Ch. Augereau ◽  
G. Feldman ◽  
B. Wolf ◽  
T.L. Hansen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency

Prenatal diagnosis of pyruvate carboxylase deficiency

1985 ◽  
Vol 5 (1) ◽  
pp. 67-71 ◽  
Author(s):  
B. H. Robinson ◽  
J. R. Toone ◽  
R. Petrova Benedict ◽  
J. E. Dimmick ◽  
J. Oei ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pyruvate Carboxylase ◽  
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

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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