Literature DB >> 26362094

Liver transplantation in severe methylmalonic acidemia: The sooner, the better.

Marco Spada1, Pier Luigi Calvo1, Andrea Brunati2, Licia Peruzzi3, Dominic Dell'Olio4, Renato Romagnoli2, Francesco Porta1.   

Abstract

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Year:  2015        PMID： 26362094     DOI： 10.1016/j.jpeds.2015.08.022

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


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  10 in total

1.  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 2.  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 3.  Combined and sequential liver-kidney transplantation in children.

Authors:  Ryszard Grenda; Piotr Kaliciński
Journal:  Pediatr Nephrol       Date:  2018-01-10       Impact factor: 3.714

4.  Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.

Authors:  Tzu-Hung Chu; Yin-Hsiu Chien; Hsiang-Yu Lin; Hsuan-Chieh Liao; Huey-Jane Ho; Chih-Jou Lai; Chuan-Chi Chiang; Niang-Cheng Lin; Chia-Feng Yang; Wuh-Liang Hwu; Ni-Chung Lee; Shuan-Pei Lin; Chin-Su Liu; Rey-Heng Hu; Ming-Chih Ho; Dau-Ming Niu
Journal:  Orphanet J Rare Dis       Date:  2019-04-02       Impact factor: 4.123

Review 5.  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

6.  Methylmalonic Acidemia with Novel MUT Gene Mutations.

Authors:  Inusha Panigrahi; Savita Bhunwal; Harish Varma; Simranjeet Singh
Journal:  Case Rep Genet       Date:  2017-10-12

7.  Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study.

Authors:  Marco Spada; Francesco Porta; Dorico Righi; Carlo Gazzera; Francesco Tandoi; Ivana Ferrero; Franca Fagioli; Maria Beatriz Herrera Sanchez; Pier Luigi Calvo; Elisa Biamino; Stefania Bruno; Monica Gunetti; Cristina Contursi; Carola Lauritano; Alessandra Conio; Antonio Amoroso; Mauro Salizzoni; Lorenzo Silengo; Giovanni Camussi; Renato Romagnoli
Journal:  Stem Cell Rev Rep       Date:  2020-02       Impact factor: 5.739

8.  Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia.

Authors:  Casey Siegel; Ronen Arnon; Sander Florman; John Bucuvalas; Kimihiko Oishi
Journal:  Nutrients       Date:  2020-09-29       Impact factor: 5.717

9.  Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data.

Authors:  Femke Molema; Diego Martinelli; Friederike Hörster; Stefan Kölker; Trine Tangeraas; Barbara de Koning; Carlo Dionisi-Vici; Monique Williams
Journal:  J Inherit Metab Dis       Date:  2020-10-29       Impact factor: 4.982

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
  10 in total

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