Literature DB >> 18367750

An adult with type 2 citrullinemia presenting in Europe.

Giuseppe Fiermonte, Derek Soon, Abhijit Chaudhuri, Eleonora Paradies, Philip J Lee, Steve Krywawych, Ferdinando Palmieri, Robin H Lachmann.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18367750     DOI： 10.1056/NEJMc0707353

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  9 in total

1.  Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.

Authors:  Magnus Monné; Daniela Valeria Miniero; Lucia Daddabbo; Alan J Robinson; Edmund R S Kunji; Ferdinando Palmieri
Journal:  J Biol Chem       Date:  2012-01-19       Impact factor: 5.157

2.  KRAS-regulated glutamine metabolism requires UCP2-mediated aspartate transport to support pancreatic cancer growth.

Authors:  Susanna Raho; Loredana Capobianco; Rocco Malivindi; Angelo Vozza; Carmela Piazzolla; Francesco De Leonardis; Ruggiero Gorgoglione; Pasquale Scarcia; Francesca Pezzuto; Gennaro Agrimi; Simona N Barile; Isabella Pisano; Stephan J Reshkin; Maria R Greco; Rosa A Cardone; Vittoria Rago; Yuan Li; Carlo M T Marobbio; Wolfgang Sommergruber; Christopher L Riley; Francesco M Lasorsa; Edward Mills; Maria C Vegliante; Giuseppe E De Benedetto; Deborah Fratantonio; Luigi Palmieri; Vincenza Dolce; Giuseppe Fiermonte
Journal:  Nat Metab       Date:  2020-11-23

3.  Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Authors:  T Hutchin; M A Preece; C Hendriksz; A Chakrapani; V McClelland; F Okumura; Y-Z Song; M Iijima; K Kobayashi; T Saheki; P McKiernan; U Baumann
Journal:  J Inherit Metab Dis       Date:  2009-06-11       Impact factor: 4.982

4.  Liver transplantation in an adult with citrullinaemia type 2.

Authors:  Hui-Hui Tan; Wan-Cheng Chow; Kiat-Hon Lim; Wei-Keat Wan; Alexander Y F Chung; Peng-Chung Cheow; Chee-Kiat Tan
Journal:  J Transplant       Date:  2011-05-10

5.  Anesthetic experience of an adult male with citrullinemia type II: a case report.

Authors:  Jung Ju Choi; Hong Soon Kim; Kyung Cheon Lee; Youseok Shin; Youn Yi Jo
Journal:  BMC Anesthesiol       Date:  2016-10-11       Impact factor: 2.217

Review 6.  Glutamine-Derived Aspartate Biosynthesis in Cancer Cells: Role of Mitochondrial Transporters and New Therapeutic Perspectives.

Authors:  Ruggiero Gorgoglione; Valeria Impedovo; Christopher L Riley; Deborah Fratantonio; Stefano Tiziani; Luigi Palmieri; Vincenza Dolce; Giuseppe Fiermonte
Journal:  Cancers (Basel)       Date:  2022-01-04       Impact factor: 6.639

7.  A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.

Authors:  Nagehan Ersoy Tunalı; Carlo M T Marobbio; N Ozan Tiryakioğlu; Giuseppe Punzi; Seha K Saygılı; Hasan Onal; Ferdinando Palmieri
Journal:  Mol Genet Metab       Date:  2014-03-20       Impact factor: 4.797

Review 8.  Mitochondrial Carriers for Aspartate, Glutamate and Other Amino Acids: A Review.

Authors:  Magnus Monné; Angelo Vozza; Francesco Massimo Lasorsa; Vito Porcelli; Ferdinando Palmieri
Journal:  Int J Mol Sci       Date:  2019-09-10       Impact factor: 5.923

9.  Citrin deficiency mimicking mitochondrial depletion syndrome.

Authors:  S C Grünert; A Schumann; P Freisinger; S Rosenbaum-Fabian; M Schmidts; A J Mueller; S Beck-Wödl; T B Haack; H Schneider; H Fuchs; U Teufel; G Gramer; L Hannibal; U Spiekerkoetter
Journal:  BMC Pediatr       Date:  2020-11-11       Impact factor: 2.125
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.