Literature DB >> 35322348

Compound heterozygous variants of MTHFR presenting as treatable leukodystrophy with reversible visuospatial deficits.

Arkaprava Chakraborty1, Adreesh Mukherjee2, Sumanta Sarkar1, Souvik Dubey1, Goutam Gangopadhyay1.   

Abstract

Entities:  

Keywords:  Homocysteine; Leukodystrophy; Methylenetetrahydrofolate reductase; Visuospatial

Year:  2022        PMID： 35322348     DOI： 10.1007/s13760-022-01934-z

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  5 in total

1.  Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.

Authors:  Nicholas M Brown; Victoria M Pratt; Arlene Buller; Lisa Pike-Buchanan; Joy B Redman; Weimin Sun; Rebecca Chen; Beryl Crossley; Matthew J McGinniss; Franklin Quan; Charles M Strom
Journal:  Genet Med       Date:  2005-04       Impact factor: 8.822

2.  Leukodystrophies: Five new things.

Authors:  Marjo S van der Knaap; Nicole I Wolf; Vivi M Heine
Journal:  Neurol Clin Pract       Date:  2016-12

Review 3.  Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

Authors:  David S Lynch; Charles Wade; Anderson Rodrigues Brandão de Paiva; Nevin John; Justin A Kinsella; Áine Merwick; Rebekah M Ahmed; Jason D Warren; Catherine J Mummery; Jonathan M Schott; Nick C Fox; Henry Houlden; Matthew E Adams; Indran Davagnanam; Elaine Murphy; Jeremy Chataway
Journal:  J Neurol Neurosurg Psychiatry       Date:  2018-11-22       Impact factor: 10.154

Review 4.  Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Authors:  Ana Gales; Marion Masingue; Stephanie Millecamps; Stephane Giraudier; Laure Grosliere; Claude Adam; Claudio Salim; Vincent Navarro; Yann Nadjar
Journal:  Orphanet J Rare Dis       Date:  2018-02-01       Impact factor: 4.123
  5 in total

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