Literature DB >> 16435224

Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.

M D Bain1, J Till, M G Jones, G T N Besley, P Lee, D Oliveira, R A Chalmers.   

Abstract

A 36-year follow-up on the original patient described with methylmalonic aciduria has shown that she has methylmalonyl-CoA apomutase deficiency. The main clinical problem associated with her methylmalonic aciduria is progressive renal impairment requiring commencement of haemodialysis at 42 years of age.

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Year:  2005        PMID： 16435224     DOI： 10.1007/s10545-005-0244-1

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


  1 in total

1.  Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791
  1 in total
  2 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

Review 2.  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
  2 in total

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