Literature DB >> 7564229

Long-term follow-up of 77 patients with isolated methylmalonic acidaemia.

E R Baumgarter1, C Viardot.   

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Year:  1995        PMID： 7564229     DOI： 10.1007/BF00711749

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


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  5 in total

1.  Chronic renal failure in methylmalonic acidaemia.

Authors:  J H Walter; A Michalski; W M Wilson; J V Leonard; T M Barratt; M J Dillon
Journal:  Eur J Pediatr       Date:  1989-01       Impact factor: 3.183

2.  Renal tubular dysfunction in methylmalonic acidaemia.

Authors:  C T D'Angio; M J Dillon; J V Leonard
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

3.  Tubulointerstitial nephritis in methylmalonic acidemia.

Authors:  S L Rutledge; M Geraghty; E Mroczek; D Rosenblatt; E Kohout
Journal:  Pediatr Nephrol       Date:  1993-02       Impact factor: 3.714

4.  The natural history of the inherited methylmalonic acidemias.

Authors:  S M Matsui; M J Mahoney; L E Rosenberg
Journal:  N Engl J Med       Date:  1983-04-14       Impact factor: 91.245

5.  Progressive renal insufficiency in methylmalonic acidemia.

Authors:  K H Molteni; T D Oberley; J A Wolff; A L Friedman
Journal:  Pediatr Nephrol       Date:  1991-05       Impact factor: 3.714
  5 in total
  49 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.  Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria.

Authors:  Claus Peter Schmitt; Otto Mehls; Friedrich K Trefz; Friederike Hörster; T Lutz Weber; Stefan Kölker
Journal:  Pediatr Nephrol       Date:  2004-07-16       Impact factor: 3.714

3.  Successful dialysis in a boy with methylmalonic acidemia.

Authors:  Kyung Hoon Paik; Ji Eun Lee; Dong-Kyu Jin
Journal:  Pediatr Nephrol       Date:  2004-02-21       Impact factor: 3.714

4.  Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

Authors:  G Touati; V Valayannopoulos; K Mention; P de Lonlay; P Jouvet; E Depondt; M Assoun; J C Souberbielle; D Rabier; H Ogier de Baulny; J-M Saudubray
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 5.  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

6.  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

7.  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

8.  Neurological outcome of methylmalonic acidaemia.

Authors:  P Nicolaides; J Leonard; R Surtees
Journal:  Arch Dis Child       Date:  1998-06       Impact factor: 3.791

9.  Enamel defects and salivary methylmalonate in methylmalonic acidemia.

Authors:  C W Bassim; J T Wright; J P Guadagnini; R Muralidharan; J Sloan; D L Domingo; C P Venditti; T C Hart
Journal:  Oral Dis       Date:  2009-01-09       Impact factor: 3.511

10.  Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Authors:  Faiqa Imtiaz; Bashayer M Al-Mubarak; Abeer Al-Mostafa; Mohamed Al-Hamed; Rabab Allam; Zuhair Al-Hassnan; Mohammed Al-Owain; Hamad Al-Zaidan; Zuhair Rahbeeni; Alya Qari; Eissa Ali Faqeih; Ali Alasmari; Fuad Al-Mutairi; Majid Alfadhel; Wafaa M Eyaid; Mohamed S Rashed; Moeenaldeen Al-Sayed
Journal:  JIMD Rep       Date:  2015-11-29
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