Literature DB >> 25882873

Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?

Jennifer L Sloan1, Irini Manoli1, Charles P Venditti2.   

Abstract

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Year:  2015        PMID： 25882873     DOI： 10.1016/j.jpeds.2015.03.026

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  20 in total

1.  FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

Authors:  Irini Manoli; Justin R Sysol; Madeline W Epping; Lina Li; Cindy Wang; Jennifer L Sloan; Alexandra Pass; Jack Gagné; Yiouli P Ktena; Lingli Li; Niraj S Trivedi; Bazoumana Ouattara; Patricia M Zerfas; Victoria Hoffmann; Mones Abu-Asab; Maria G Tsokos; David E Kleiner; Caterina Garone; Kristina Cusmano-Ozog; Gregory M Enns; Hilary J Vernon; Hans C Andersson; Stephanie Grunewald; Abdel G Elkahloun; Christiane L Girard; Jurgen Schnermann; Salvatore DiMauro; Eva Andres-Mateos; Luk H Vandenberghe; Randy J Chandler; Charles P Venditti
Journal:  JCI Insight       Date:  2018-12-06

Review 2.  Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.

Authors:  Susan E Waisbren
Journal:  Metab Brain Dis       Date:  2022-03-29       Impact factor: 3.655

Review 3.  Organic acidurias in adults: late complications and management.

Authors:  Ali Tunç Tuncel; Nikolas Boy; Marina A Morath; Friederike Hörster; Ulrike Mütze; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-01-15       Impact factor: 4.982

4.  Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Authors:  Patrick Forny; Friederike Hörster; Diana Ballhausen; Anupam Chakrapani; Kimberly A Chapman; Carlo Dionisi-Vici; Marjorie Dixon; Sarah C Grünert; Stephanie Grunewald; Goknur Haliloglu; Michel Hochuli; Tomas Honzik; Daniela Karall; Diego Martinelli; Femke Molema; Jörn Oliver Sass; Sabine Scholl-Bürgi; Galit Tal; Monique Williams; Martina Huemer; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2021-03-09       Impact factor: 4.750

Review 5.  Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.

Authors:  Esther Imperlini; Lucia Santorelli; Stefania Orrù; Emanuela Scolamiero; Margherita Ruoppolo; Marianna Caterino
Journal:  Biomed Res Int       Date:  2016-06-14       Impact factor: 3.411

Review 6.  Genome editing for inborn errors of metabolism: advancing towards the clinic.

Authors:  Jessica L Schneller; Ciaran M Lee; Gang Bao; Charles P Venditti
Journal:  BMC Med       Date:  2017-02-27       Impact factor: 8.775

Review 7.  Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases.

Authors:  Michele Costanzo; Miriam Zacchia; Giuliana Bruno; Daniela Crisci; Marianna Caterino; Margherita Ruoppolo
Journal:  Kidney Dis (Basel)       Date:  2017-06-30

8.  Disorders of branched chain amino acid metabolism.

Authors:  I Manoli; C P Venditti
Journal:  Transl Sci Rare Dis       Date:  2016-11-07

9.  Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.

Authors:  Noha Elserafy; Sue Thompson; Troy Dalkeith; Michael Stormon; Gordon Thomas; Albert Shun; Janine Sawyer; Shanti Balasubramanian; Kaustuv Bhattacharya; Nadia Badawi; Carolyn Ellaway
Journal:  JIMD Rep       Date:  2021-05-04

10.  Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.

Authors:  Randy J Chandler; Leah E Venturoni; Jing Liao; Brandon T Hubbard; Jessica L Schneller; Victoria Hoffmann; Susana Gordo; Shengwen Zang; Chih-Wei Ko; Nelson Chau; Kyle Chiang; Mark A Kay; Adi Barzel; Charles P Venditti
Journal:  Hepatology       Date:  2021-05-21       Impact factor: 17.298
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