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Literature DB >> 11865284

Metabolic stroke in methylmalonic acidemia five years after liver transplantation.

Anupam Chakrapani¹, P Sivakumar, P J McKiernan, J V Leonard.

Abstract

It is believed that liver transplantation may improve the outcome of early onset methylmalonic acidemia. We report a case of methylmalonic acidemia in which successful liver transplantation in infancy failed to prevent neurologic damage caused by a metabolic stroke.

Entities: Disease

Mesh：

Substances：
Methylmalonic Acid

Year: 2002 PMID： 11865284 DOI： 10.1067/mpd.2002.121698

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

Keyword Cloud
Cited

31 in total

1. 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

2. Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.

Authors: Edward S Y Wong; Chantelle McIntyre; Heidi L Peters; Enzo Ranieri; Donald S Anson; Janice M Fletcher
Journal: Hum Gene Ther Date: 2014-04-02 Impact factor: 5.695

Review 3. Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.

Authors: Marina A Morath; Friederike Hörster; Sven W Sauer
Journal: Pediatr Nephrol Date: 2012-07-20 Impact factor: 3.714

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. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

Authors: C E Keegan; D M Martin; D J Quint; J L Gorski
Journal: Eur J Pediatr Date: 2003-02-07 Impact factor: 3.183

Metabolic stroke in methylmalonic acidemia five years after liver transplantation.

1. Renal transplantation in a boy with methylmalonic acidaemia.

2. Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.

Review 3. Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.

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

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

6. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

7. Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.

8. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.

Review 9. Methylmalonic and propionic acidemias: clinical management update.

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