Literature DB >> 9266366

A case of benign pyruvate carboxylase deficiency with normal development.

J Hamilton1, M D Rae, R W Logan, P H Robinson.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9266366     DOI： 10.1023/a:1005350600278

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  3 in total

1.  Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.

Authors:  B M Atkin; M F Utter; M B Weinberg
Journal:  Pediatr Res       Date:  1979-01       Impact factor: 3.756

2.  Pyruvate carboxylase deficiency: a benign variant with normal development.

Authors:  R N Van Coster; P M Fernhoff; D C De Vivo
Journal:  Pediatr Res       Date:  1991-07       Impact factor: 3.756

3.  Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.

Authors:  C Augereau; D Pham Dinh; A Moncion; C Marsac; J M Saudubray; B H Robinson
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  3 in total
  5 in total

1.  The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Authors:  Dong Wang; Hong Yang; Kevin C De Braganca; Jiesheng Lu; Ling Yu Shih; Paz Briones; Tim Lang; Darryl C De Vivo
Journal:  Mol Genet Metab       Date:  2008-08-03       Impact factor: 4.797

2.  Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.

Authors:  Mary Anna Carbone; Brian H Robinson
Journal:  Biochem J       Date:  2003-02-15       Impact factor: 3.857

3.  Cryo-EM analysis reveals new insights into the mechanism of action of pyruvate carboxylase.

Authors:  Gorka Lasso; Linda P C Yu; David Gil; Song Xiang; Liang Tong; Mikel Valle
Journal:  Structure       Date:  2010-10-13       Impact factor: 5.006

4.  Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Authors:  Polina Tsygankova; Igor Bychkov; Marina Minzhenkova; Natalia Pechatnikova; Lyudmila Bessonova; Galina Buyanova; Irina Naumchik; Nikita Beskorovainiy; Vyacheslav Tabakov; Yulia Itkis; Nadezhda Shilova; Ekaterina Zakharova
Journal:  Mol Genet Metab Rep       Date:  2022-06-23

Review 5.  Structure, mechanism and regulation of pyruvate carboxylase.

Authors:  Sarawut Jitrapakdee; Martin St Maurice; Ivan Rayment; W Wallace Cleland; John C Wallace; Paul V Attwood
Journal:  Biochem J       Date:  2008-08-01       Impact factor: 3.857
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.