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Results of search for 'su:"Pyruvate Carboxylase Deficiency Disease"', page 1 of 8
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Authors
Atkin, B M
Augereau, C
Baker, H
Bartlett, K
Baumgartner, E R
Bonjour, J P
Burri, B J
Charpentier, C
Duran, M
Feldman, G L
Marsac, C
Nyhan, W L
Robinson, B H
Saudubray, J M
Suormala, T
Sweetman, L
Tada, K
Wadman, S K
Wick, H
Wolf, B
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Topics
Biotin
Carbon-Carbon Ligases
Carboxy-Lyases
Child, Preschool
Female
Fibroblasts
Humans
Infant
Infant, Newborn
Lactates
Ligases
Male
Pyruvate Carboxylase
Pyruvate Carboxylase Deficiency Disease
blood
deficiency
diagnosis
enzymology
genetics
metabolism
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Results
1.
Measurement of pyruvate carboxylase activity in amniotic fluid cells.
[electronic resource]
by
Feldman, G L
Wolf, B
Producer:
19800514
In:
Pediatric research
vol. 14
Online resources:
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2.
Pyruvicacidemia.
[electronic resource]
by
Tibrewala, V N
Ambani, L M
Shah, S B
Apte, B N
Producer:
19910328
In:
Indian pediatrics
vol. 27
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3.
[Pyruvate carboxylase deficiency].
[electronic resource]
by
Naito, E
Producer:
19980709
In:
Ryoikibetsu shokogun shirizu
no. 18 Pt 1
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4.
Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.
[electronic resource]
by
Arnold, G L
Griebel, M L
Porterfield, M
Brewster, M
Producer:
20020110
In:
Clinical pediatrics
vol. 40
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5.
[Two cases of propionic academia in the acute episodes].
[electronic resource]
by
Luo, Fang
Chen, Zheng
Ma, Xiao-lu
Producer:
20110111
In:
Zhonghua er ke za zhi = Chinese journal of pediatrics
vol. 47
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6.
Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency.
[electronic resource]
by
Gilbert, E F
Arya, S
Chun, R
Producer:
19830415
In:
Archives of pathology & laboratory medicine
vol. 107
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7.
Congenital lactic acidosis associated with pyruvate carboxylase deficiency.
[electronic resource]
by
Sagy, M
Barzilay, Z
Barash, V
Oren, M
Vardi, P
Cohen, B E
Gutman, A
Producer:
19820420
In:
Israel journal of medical sciences
vol. 17
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8.
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.
[electronic resource]
by
Coude, F X
Ogier, H
Marsac, C
Munnich, A
Charpentier, C
Saudubray, J M
Producer:
19820313
In:
Pediatrics
vol. 68
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9.
Antenatal diagnosis of pyruvate-carboxylase deficiency.
[electronic resource]
by
Marsac, C
Augereau, C
Boue, J
Vidailhet, M
Producer:
19810528
In:
Lancet (London, England)
vol. 1
Online resources:
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10.
[Congenital oculomotor apraxia and partial deficiency of pyruvate carboxylase].
[electronic resource]
by
Vaquerizo Madrid, J
Val Sánchez de León, J M
Sánchez Alarcón, J
Remón Alvarez-Arenas, J
Producer:
19980504
In:
Anales espanoles de pediatria
vol. 47
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11.
Lymphoblasts and diagnosis of pyruvate carboxylase deficiency.
[electronic resource]
by
Takada, G
Ohtake, M
Miyabayashi, S
Tada, K
Producer:
19820624
In:
The Tohoku journal of experimental medicine
vol. 136
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12.
My favorite pyruvate carboxylase.
[electronic resource]
by
Wallace, John C
Producer:
20101004
In:
IUBMB life
vol. 62
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13.
Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.
[electronic resource]
by
Breen, C
White, F J
Scott, C A B
Heptinstall, L
Walter, J H
Jones, S A
Morris, A A M
Producer:
20150102
In:
European journal of pediatrics
vol. 173
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14.
A case of benign pyruvate carboxylase deficiency with normal development.
[electronic resource]
by
Hamilton, J
Rae, M D
Logan, R W
Robinson, P H
Producer:
19971128
In:
Journal of inherited metabolic disease
vol. 20
Online resources:
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15.
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
[electronic resource]
by
Marin-Valencia, Isaac
Roe, Charles R
Pascual, Juan M
Producer:
20110124
In:
Molecular genetics and metabolism
vol. 101
Online resources:
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16.
Pyruvate carboxylase activity in amniotic fluid cells.
[electronic resource]
by
Hansen, T L
Christensen, E
Producer:
19810521
In:
Pediatric research
vol. 14
Online resources:
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17.
Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.
[electronic resource]
by
Mangla, Pragya
Gambhir, Poonam Singh
Sudhanshu, Siddhnath
Srivastava, Priyanka
Rai, Archana
Bhatia, Vijayalakshmi
Phadke, Shubha R
Producer:
20181010
In:
Indian journal of pediatrics
vol. 84
Online resources:
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18.
Pyruvate carboxylase deficiency in twins.
[electronic resource]
by
Pollock, M A
Cumberbatch, M
Bennett, M J
Gray, R G
Brand, M
Hyland, K
Congdon, P J
Pitts-Tucker, T
Gray, S
Producer:
19860729
In:
Journal of inherited metabolic disease
vol. 9
Online resources:
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19.
Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
[electronic resource]
by
Almomen, Momen
Sinclair, Graham
Stockler-Ipsiroglu, Sylvia G
Horvath, Gabriella A
Producer:
20191022
In:
Neuropediatrics
vol. 49
Online resources:
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20.
Pyruvate carboxylase deficiency: a benign variant with normal development.
[electronic resource]
by
Van Coster, R N
Fernhoff, P M
De Vivo, D C
Producer:
19911017
In:
Pediatric research
vol. 30
Online resources:
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