Similar articles for PMID: 21813566

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1

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS. Watkins D, et al. J Med Genet. 2011 Sep;48(9):590-2. doi: 10.1136/jmedgenet-2011-100286. Epub 2011 Aug 3. J Med Genet. 2011. PMID: 21813566

2

Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.

Watkins D, Rosenblatt DS. Watkins D, et al. Biochimie. 2016 Jul;126:3-5. doi: 10.1016/j.biochi.2016.05.001. Epub 2016 May 6. Biochimie. 2016. PMID: 27163846

3

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR. Burda P, et al. J Inherit Metab Dis. 2015 Sep;38(5):863-72. doi: 10.1007/s10545-015-9810-3. Epub 2015 Jan 30. J Inherit Metab Dis. 2015. PMID: 25633902 Free article. Review.

4

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

Ramakrishnan KA, Pengelly RJ, Gao Y, Morgan M, Patel SV, Davies EG, Ennis S, Faust SN, Williams AP. Ramakrishnan KA, et al. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1160-1166.e10. doi: 10.1016/j.jaip.2016.07.014. Epub 2016 Oct 1. J Allergy Clin Immunol Pract. 2016. PMID: 27707659

5

Severe combined immunodeficiency resulting from mutations in MTHFD1.

Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, Watkins D, Rosenblatt DS, Orange JS. Keller MD, et al. Pediatrics. 2013 Feb;131(2):e629-34. doi: 10.1542/peds.2012-0899. Epub 2013 Jan 6. Pediatrics. 2013. PMID: 23296427

6

Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.

Field MS, Kamynina E, Watkins D, Rosenblatt DS, Stover PJ. Field MS, et al. Proc Natl Acad Sci U S A. 2015 Jan 13;112(2):400-5. doi: 10.1073/pnas.1414555112. Epub 2014 Dec 29. Proc Natl Acad Sci U S A. 2015. PMID: 25548164 Free PMC article.

7

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.

Bidla G, Watkins D, Chéry C, Froese DS, Ells C, Kerachian M, Saskin A, Christensen KE, Gilfix BM, Guéant JL, Rosenblatt DS. Bidla G, et al. Mol Genet Metab. 2020 Jul;130(3):179-182. doi: 10.1016/j.ymgme.2020.04.008. Epub 2020 May 5. Mol Genet Metab. 2020. PMID: 32414565

8

MTHFD1 regulates nuclear de novo thymidylate biosynthesis and genome stability.

Field MS, Kamynina E, Stover PJ. Field MS, et al. Biochimie. 2016 Jul;126:27-30. doi: 10.1016/j.biochi.2016.02.001. Epub 2016 Feb 4. Biochimie. 2016. PMID: 26853819 Free PMC article.

9

Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

Watkins D, Rosenblatt DS. Watkins D, et al. J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23. J Inherit Metab Dis. 2012. PMID: 22108709 Review.

10

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Alfares A, et al. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126

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