Literature DB >> 15258847

Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria.

Claus Peter Schmitt, Otto Mehls, Friedrich K Trefz, Friederike Hörster, T Lutz Weber, Stefan Kölker.   

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Year:  2004        PMID： 15258847     DOI： 10.1007/s00467-004-1570-5

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  9 in total

1.  Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.

Authors:  Jürgen G Okun; Friederike Hörster; Lilla M Farkas; Patrik Feyh; Angela Hinz; Sven Sauer; Georg F Hoffmann; Klaus Unsicker; Ertan Mayatepek; Stefan Kölker
Journal:  J Biol Chem       Date:  2002-02-14       Impact factor: 5.157

2.  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

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

Authors:  E R Baumgarter; C Viardot
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Long-term outcome of paediatric patients with hereditary tubular disorders.

Authors:  D Haffner; A Weinfurth; F Manz; H Schmidt; H J Bremer; O Mehls; K Schärer
Journal:  Nephron       Date:  1999       Impact factor: 2.847

5.  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

6.  Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.

Authors:  Stefan Kölker; Marina Schwab; Friederike Hörster; Sven Sauer; Angela Hinz; Nicole I Wolf; Ertan Mayatepek; Georg F Hoffmann; Jan A M Smeitink; Jürgen G Okun
Journal:  J Biol Chem       Date:  2003-09-12       Impact factor: 5.157

7.  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

8.  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

9.  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
  9 in total
  8 in total

Review 1.  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

2.  Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.

Authors:  D Coman; J Huang; S McTaggart; O Sakamoto; T Ohura; J McGill; J Burke
Journal:  Pediatr Nephrol       Date:  2005-10-25       Impact factor: 3.714

Review 3.  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

4.  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

Review 5.  Organic acidurias in adults: late complications and management.

Authors:  Ali Tunç Tuncel; Nikolas Boy; Marina A Morath; Friederike Hörster; Ulrike Mütze; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-01-15       Impact factor: 4.982

Review 6.  Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach.

Authors:  M A Morath; J G Okun; I B Müller; S W Sauer; F Hörster; G F Hoffmann; S Kölker
Journal:  J Inherit Metab Dis       Date:  2007-09-12       Impact factor: 4.982

Review 7.  Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges.

Authors:  Friederike Hörster; Georg F Hoffmann
Journal:  Pediatr Nephrol       Date:  2004-08-04       Impact factor: 3.714

Review 8.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123
  8 in total

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