Literature DB >> 15959932

Methylmalonic acidemia (MMA).

Pranoot Tanpaiboon1.   

Abstract

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Year:  2005        PMID： 15959932     DOI： 10.1016/j.ymgme.2005.03.008

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  9 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.  Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.

Authors:  Mehdi Shafaat; Mohammad Reza Alaee; Ali Rahmanifar; Aria Setoodeh; Maryam Razzaghy-Azar; Hamideh Bagherian; Samira Dabbagh Bagheri; Fatemeh Zafarghandi Motlagh; Mehrdad Hashemi; Maryam Abiri; Sirous Zeinali
Journal:  Metab Brain Dis       Date:  2018-07-18       Impact factor: 3.584

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.  Multiple sclerosis-like neurological manifestations in a coeliac patient: nothing is as it seems.

Authors:  Pasquale Mansueto; Laura Di Stefano; Alberto D'Alcamo; Antonio Carroccio
Journal:  BMJ Case Rep       Date:  2012-07-04

Review 5.  Patterns of brain injury in inborn errors of metabolism.

Authors:  Andrea L Gropman
Journal:  Semin Pediatr Neurol       Date:  2012-12       Impact factor: 1.636

6.  Switch I-dependent allosteric signaling in a G-protein chaperone-B12 enzyme complex.

Authors:  Gregory C Campanello; Michael Lofgren; Adam L Yokom; Daniel R Southworth; Ruma Banerjee
Journal:  J Biol Chem       Date:  2017-09-07       Impact factor: 5.157

7.  Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients.

Authors:  Sarar Mohamed; Muddathir H Hamad; Khaled K Abu-Amero
Journal:  Saudi Med J       Date:  2015-09       Impact factor: 1.484

8.  Infection Susceptibility in Gastric Intrinsic Factor (Vitamin B12)-Defective Mice Is Subject to Maternal Influences.

Authors:  Lynda Mottram; Anneliese O Speak; Reza M Selek; Emma L Cambridge; Zoe McIntyre; Leanne Kane; Subhankar Mukhopadhyay; Carolyn Grove; Amy Colin; Cordelia Brandt; Maria A Duque-Correa; Jessica Forbester; Tu Anh Pham Nguyen; Christine Hale; George S Vasilliou; Mark J Arends; Brendan W Wren; Gordon Dougan; Simon Clare
Journal:  MBio       Date:  2016-06-21       Impact factor: 7.867

9.  Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.

Authors:  Yue Yu; Ruixue Shuai; Lili Liang; Wenjuan Qiu; Linghua Shen; Shengnan Wu; Haiyan Wei; Yongxing Chen; Chiju Yang; Peng Xu; Xigui Chen; Hui Zou; Jizhen Feng; Tingting Niu; Haili Hu; Jun Ye; Huiwen Zhang; Deyun Lu; Zhuwen Gong; Xia Zhan; Wenjun Ji; Xuefan Gu; Lianshu Han
Journal:  Mol Genet Genomic Med       Date:  2021-10-20       Impact factor: 2.183
  9 in total

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