Literature DB >> 9627602

Combined liver-kidney transplantation in methylmalonic acidemia.

W G van 't Hoff1, M Dixon, J Taylor, P Mistry, K Rolles, L Rees, J V Leonard.   

Abstract

A 13-year-old boy with non-B12-responsive methylmalonic acidemia (MMA) had chronic renal failure. Hemodialysis led to symptomatic and biochemical improvement. He subsequently received a combined liver-kidney transplant. After 16 months of follow-up he has a normal lifestyle and a marked reduction in plasma and urine methylmalonate.

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Year:  1998        PMID： 9627602     DOI： 10.1016/s0022-3476(98)70407-x

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


  27 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

2.  Renal transplantation in a boy with methylmalonic acidaemia.

Authors:  Joanna Clare Clothier; Anupam Chakrapani; Mary-Anne Preece; Patrick McKiernan; Rajat Gupta; Anita Macdonald; Sally-Anne Hulton
Journal:  J Inherit Metab Dis       Date:  2011-03-17       Impact factor: 4.982

3.  Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; Suma Chandrasekaran; Charles P Venditti
Journal:  Hum Gene Ther       Date:  2010-09       Impact factor: 5.695

4.  A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Authors:  Hilary J Vernon; C John Sperati; Joshua D King; Andrea Poretti; Neil R Miller; Jennifer L Sloan; Andrew M Cameron; Donna Myers; Charles P Venditti; David Valle
Journal:  J Inherit Metab Dis       Date:  2014-06-25       Impact factor: 4.982

Review 5.  Genetic and genomic systems to study methylmalonic acidemia.

Authors:  R J Chandler; C P Venditti
Journal:  Mol Genet Metab       Date:  2005-09-22       Impact factor: 4.797

6.  Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia.

Authors:  Bemigho Etuwewe; Caroline A Jones; Shipra Mathur; Katherine P Wright; Andrew A M Morris
Journal:  Pediatr Nephrol       Date:  2008-12-02       Impact factor: 3.714

7.  Mitochondrial dysfunction in mut methylmalonic acidemia.

Authors:  Randy J Chandler; Patricia M Zerfas; Sara Shanske; Jennifer Sloan; Victoria Hoffmann; Salvatore DiMauro; Charles P Venditti
Journal:  FASEB J       Date:  2008-12-16       Impact factor: 5.191

Review 8.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

9.  Pediatric combined liver-kidney transplantation: a single-center experience of 18 cases.

Authors:  Rémi Duclaux-Loras; Justine Bacchetta; Julien Berthiller; Christine Rivet; Delphine Demède; Etienne Javouhey; Rémi Dubois; Frédérique Dijoud; Alain Lachaux; Lionel Badet; Olivier Boillot; Pierre Cochat
Journal:  Pediatr Nephrol       Date:  2016-04-08       Impact factor: 3.714

10.  Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.

Authors:  Randy J Chandler; Charles P Venditti
Journal:  Mol Ther       Date:  2009-10-27       Impact factor: 11.454
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