U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Inherited disorder of folate metabolism

MedGen UID:
541372
Concept ID:
C0268605
Disease or Syndrome
SNOMED CT: Inherited disorder of folate metabolism (4702003)

Professional guidelines

PubMed

Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Schiff M, Blom HJ
Neuropediatrics 2012 Dec;43(6):295-304. Epub 2012 Nov 2 doi: 10.1055/s-0032-1329883. PMID: 23124942
Martinelli D, Deodato F, Dionisi-Vici C
J Inherit Metab Dis 2011 Feb;34(1):127-35. Epub 2010 Jul 15 doi: 10.1007/s10545-010-9161-z. PMID: 20632110

Recent clinical studies

Etiology

Masingue M, Benoist JF, Roze E, Moussa F, Sedel F, Lubetzki C, Nadjar Y
J Neurol Sci 2019 Jan 15;396:112-118. Epub 2018 Nov 10 doi: 10.1016/j.jns.2018.11.014. PMID: 30448717
Munger RG, Tamura T, Johnston KE, Feldkamp ML, Pfister R, Cutler R, Murtaugh MA, Carey JC
Birth Defects Res A Clin Mol Teratol 2011 Mar;91(3):153-61. Epub 2011 Feb 2 doi: 10.1002/bdra.20762. PMID: 21290562Free PMC Article
Yates JR, Ferguson-Smith MA, Shenkin A, Guzman-Rodriguez R, White M, Clark BJ
Clin Genet 1987 May;31(5):279-87. doi: 10.1111/j.1399-0004.1987.tb02809.x. PMID: 3608213

Diagnosis

Masingue M, Benoist JF, Roze E, Moussa F, Sedel F, Lubetzki C, Nadjar Y
J Neurol Sci 2019 Jan 15;396:112-118. Epub 2018 Nov 10 doi: 10.1016/j.jns.2018.11.014. PMID: 30448717
Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR
Hum Mutat 2015 Jun;36(6):611-21. Epub 2015 Apr 27 doi: 10.1002/humu.22779. PMID: 25736335

Therapy

Yates JR, Ferguson-Smith MA, Shenkin A, Guzman-Rodriguez R, White M, Clark BJ
Clin Genet 1987 May;31(5):279-87. doi: 10.1111/j.1399-0004.1987.tb02809.x. PMID: 3608213

Prognosis

Masingue M, Benoist JF, Roze E, Moussa F, Sedel F, Lubetzki C, Nadjar Y
J Neurol Sci 2019 Jan 15;396:112-118. Epub 2018 Nov 10 doi: 10.1016/j.jns.2018.11.014. PMID: 30448717

Clinical prediction guides

Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP
Am J Hum Genet 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. PMID: 34214447Free PMC Article

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...