Literature DB >> 26174677

Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband.

Ameya Paleja1, Anuradha Udumudi.   

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Year:  2015        PMID： 26174677     DOI： 10.1007/s12041-015-0520-2

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  8 in total

1.  Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

Authors:  R Jansen; F D Ledley
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

2.  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

3.  Successful pregnancy in severe methylmalonic acidaemia.

Authors:  M P Wasserstein; S Gaddipati; S E Snyderman; K Eddleman; R J Desnick; C Sansaricq
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

4.  Benign methylmalonic aciduria.

Authors:  F D Ledley; H L Levy; V E Shih; R Benjamin; M J Mahoney
Journal:  N Engl J Med       Date:  1984-10-18       Impact factor: 91.245

5.  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

Review 6.  Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.

Authors:  Alireza Radmanesh; Talieh Zaman; Hossein Ghanaati; Sanaz Molaei; Richard L Robertson; Amir A Zamani
Journal:  Pediatr Radiol       Date:  2008-07-18

7.  Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

Authors:  M J Abramowicz; M Andrien; E Dupont; H Dorchy; J Parma; L Duprez; F D Ledley; W Courtens; E Vamos
Journal:  J Clin Invest       Date:  1994-07       Impact factor: 14.808

8.  Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease.

Authors:  G Morrow; L A Barness; G J Cardinale; R H Abeles; J G Flaks
Journal:  Proc Natl Acad Sci U S A       Date:  1969-05       Impact factor: 11.205
  8 in total
  1 in total

1.  Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.

Authors:  Arnaud Wiedemann; Abderrahim Oussalah; Nathalie Lamireau; Maurane Théron; Melissa Julien; Jean-Philippe Mergnac; Baptiste Augay; Pauline Deniaud; Tom Alix; Marine Frayssinoux; François Feillet; Jean-Louis Guéant
Journal:  Cell Rep Med       Date:  2022-06-27
  1 in total

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