Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

269 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. Fischer S, et al. Among authors: rosenblatt ds. J Inherit Metab Dis. 2014 Sep;37(5):831-40. doi: 10.1007/s10545-014-9687-6. Epub 2014 Mar 6. J Inherit Metab Dis. 2014. PMID: 24599607
Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Coelho D, et al. Among authors: rosenblatt ds. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. N Engl J Med. 2008. PMID: 18385497 Free article.
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. Among authors: rosenblatt ds. 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.
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. Coelho D, et al. Among authors: rosenblatt ds. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26. Nat Genet. 2012. PMID: 22922874 Free article.
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: rosenblatt ds. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.
269 results