Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples

1998 ◽  
Vol 18 (10) ◽  
pp. 1041-1044 ◽  
Author(s):  
R. N. Van Coster ◽  
S. Janssens ◽  
J.-P. Misson ◽  
A. Verloes ◽  
J. G. Leroy
Keyword(s):  
Catalytic Activity ◽  
Prenatal Diagnosis ◽  
Direct Measurement ◽  
Pyruvate Carboxylase ◽  
Chorionic Villi ◽  
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

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

Pyruvate Carboxylase Activity in Chorionic Villi: Possibility of Application to Prenatal Diagnosis

Enzyme ◽  
1988 ◽  
Vol 39 (1) ◽  
pp. 54-59 ◽  
Author(s):  
V. (a) Barash ◽  
S. (a) Khassis ◽  
M. (b) Granat ◽  
A. (a) Gutman
Keyword(s):  
Prenatal Diagnosis ◽  
Pyruvate Carboxylase ◽  
Carboxylase Activity ◽  
Chorionic Villi

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

Prenatal diagnosis on chorionic villi using molecular techniques should be performed from mesenchymal core rather than from direct villi

2011 ◽  
Vol 31 (11) ◽  
pp. 1111-1112 ◽  
Author(s):  
Jérôme Toutain ◽  
Gwendoline Soler ◽  
Jacques Horovitz ◽  
Robert Saura
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Techniques ◽  
Chorionic Villi

PRENATAL DIAGNOSIS OF ARGININOSUCCINICACIDURIA BY ANALYSIS OF CULTURED CHORIONIC VILLI

The Lancet ◽  
1984 ◽  
Vol 324 (8401) ◽  
pp. 521-522 ◽  
Author(s):  
C.M. Vimal ◽  
A.H. Fensom ◽  
D. Heaton ◽  
R.H.T. Ward ◽  
P. Garrod ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villi

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
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