Literature DB >> 7494401

The management and outcome of propionic and methylmalonic acidaemia.

J V Leonard1.   

Abstract

The management of the severe variants of methylmalonic and propionic acidaemia remains difficult. With conventional therapy of diet, carnitine and antibiotics, mortality is high and long-term complications are common. Liver transplantation appears to be an important alternative.

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Year:  1995        PMID： 7494401     DOI： 10.1007/bf00710054

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  24 in total

1.  Structure of the human methylmalonyl-CoA mutase (MUT) locus.

Authors:  S U Nham; M F Wilkemeyer; F D Ledley
Journal:  Genomics       Date:  1990-12       Impact factor: 5.736

2.  Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

Authors:  A M Lamhonwah; T J Barankiewicz; H F Willard; D J Mahuran; F Quan; R A Gravel
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205

3.  The use of neomycin in the treatment of methylmalonic aciduria.

Authors:  S E Snyderman; C Sansaricq; P Norton; S V Phansalkar
Journal:  Pediatrics       Date:  1972-12       Impact factor: 7.124

4.  Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus.

Authors:  R Heidenreich; M Natowicz; B E Hainline; P Berman; R I Kelley; R E Hillman; G T Berry
Journal:  J Pediatr       Date:  1988-12       Impact factor: 4.406

5.  Cardiomyopathy in propionic acidaemia.

Authors:  J Collins; D Kelly
Journal:  Eur J Pediatr       Date:  1994-01       Impact factor: 3.183

6.  Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.

Authors:  A M Lamhonwah; D Leclerc; M Loyer; R Clarizio; R A Gravel
Journal:  Genomics       Date:  1994-02       Impact factor: 5.736

7.  A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia.

Authors:  M Okano; K Kishiyama; N Satake; S Kubo; N Ishikawa
Journal:  Scand J Infect Dis       Date:  1994

8.  Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

Authors:  S B van der Meer; F Poggi; M Spada; J P Bonnefont; H Ogier; P Hubert; E Depondt; D Rapoport; D Rabier; C Charpentier
Journal:  J Pediatr       Date:  1994-12       Impact factor: 4.406

9.  Cardiomyopathy in propionic acidaemia.

Authors:  A F Massoud; J V Leonard
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

10.  Neurologic outcome of propionic acidemia.

Authors:  R A Surtees; E E Matthews; J V Leonard
Journal:  Pediatr Neurol       Date:  1992 Sep-Oct       Impact factor: 3.372
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  28 in total

Review 1.  Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.

Authors:  Daniela R Melo; Alicia J Kowaltowski; Moacir Wajner; Roger F Castilho
Journal:  J Bioenerg Biomembr       Date:  2011-02       Impact factor: 2.945

2.  Lactate dehydrogenase activity is inhibited by methylmalonate in vitro.

Authors:  Laura O Saad; Sandra R Mirandola; Evelise N Maciel; Roger F Castilho
Journal:  Neurochem Res       Date:  2006-05-09       Impact factor: 3.996

Review 3.  Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia.

Authors:  Steven Yannicelli
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

4.  Osteoporotic femoral fracture in a child with propionic acidaemia presenting as non-accidental injury.

Authors:  Joseph C Talbot; Nigel W Gummerson; Wolfram Kluge; David L Shaw; Clare Groves; Geoff T Lealman
Journal:  Eur J Pediatr       Date:  2006-04-27       Impact factor: 3.183

5.  Reversible dysregulation of the mitochondrial ATP synthase in skin fibroblasts from children with vitamin B12-dependent methylmalonic acidaemia.

Authors:  A M Das
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

6.  Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.

Authors:  C D Fenske; S Jeffery; J L Weber; R S Houlston; J V Leonard; P J Lee
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

Review 7.  Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature.

Authors:  Riccardo Lubrano; Marco Elli; Massimo Rossi; Elisabetta Travasso; Claudia Raggi; Paola Barsotti; Claudia Carducci; Pasquale Berloco
Journal:  Pediatr Nephrol       Date:  2007-03-31       Impact factor: 3.714

8.  Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Authors:  B Merinero; B Pérez; C Pérez-Cerdá; A Rincón; L R Desviat; M A Martínez; P Ruiz Sala; M J García; L Aldamiz-Echevarría; J Campos; V Cornejo; M Del Toro; A Mahfoud; M Martínez-Pardo; R Parini; C Pedrón; L Peña-Quintana; M Pérez; M Pourfarzam; M Ugarte
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

Review 9.  Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.

Authors:  Peter J Mc Guire; Elizabeth Lim-Melia; George A Diaz; Kimiyo Raymond; Alexandra Larkin; Melissa P Wasserstein; Claude Sansaricq
Journal:  Mol Genet Metab       Date:  2007-10-26       Impact factor: 4.797

10.  Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

Authors:  A Rincón; C Aguado; L R Desviat; R Sánchez-Alcudia; M Ugarte; B Pérez
Journal:  Am J Hum Genet       Date:  2007-12       Impact factor: 11.025
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