Literature DB >> 32880657

Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy.

Santhakumar Senthilvelan1, Sathish Kandasamy2, Ramshekhar N Menon3, Sheela Nampoothiri4, Harikrishnan Ramachandran3, Bejoy Thomas2, Chandrasekharan Kesavadas2.   

Abstract

Entities:  

Year:  2020        PMID： 32880657     DOI： 10.1007/s00062-020-00947-6

Source DB:  PubMed          Journal:  Clin Neuroradiol        ISSN： 1869-1439            Impact factor:   3.649


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  2 in total

1.  MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency.

Authors:  V Engelbrecht; M Rassek; J Huismann; U Wendel
Journal:  AJNR Am J Neuroradiol       Date:  1997-03       Impact factor: 3.825

2.  Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

Authors:  P Goyette; B Christensen; D S Rosenblatt; R Rozen
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025
  2 in total
  1 in total

1.  Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Authors:  Parneet Kaur; Michelle C do Rosario; Malavika Hebbar; Suvasini Sharma; Neethukrishna Kausthubham; Karthik Nair; Shrikiran A; Ramesh Bhat Y; Leslie Edward S Lewis; Sheela Nampoothiri; Siddaramappa J Patil; Narayanaswami Suresh; Sunita Bijarnia Mahay; Ratna Dua Puri; Shivanand Pai; Anupriya Kaur; Rakshith Kc; Nutan Kamath; Shruti Bajaj; Ali Kumble; Rajesh Shetty; Rathika Shenoy; Mahesh Kamate; Hitesh Shah; Mamta N Muranjan; Yatheesha Bl; K Shreedhara Avabratha; Girish Subramaniam; Rajagopal Kadavigere; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Clin Genet       Date:  2021-07-30       Impact factor: 4.438
  1 in total

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