Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 508

1.

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS.

J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5.

PMID:
19058814
[PubMed - indexed for MEDLINE]
2.

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.

N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200.

PMID:
18385497
[PubMed - indexed for MEDLINE]
Free Article
3.

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B.

J Biol Chem. 2004 Oct 8;279(41):42742-9. Epub 2004 Aug 2.

PMID:
15292234
[PubMed - indexed for MEDLINE]
Free Article
4.

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR.

Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8.

PMID:
22156578
[PubMed - indexed for MEDLINE]
Free Article
5.

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

Mitchell GA, Watkins D, Melançon SB, Rosenblatt DS, Geoffroy G, Orquin J, Homsy MB, Dallaire L.

J Pediatr. 1986 Mar;108(3):410-5.

PMID:
3950820
[PubMed - indexed for MEDLINE]
6.

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.

Atkinson C, Miousse IR, Watkins D, Rosenblatt DS, Raiman JA.

JIMD Rep. 2014 Aug 26. [Epub ahead of print]

PMID:
25155779
[PubMed - as supplied by publisher]
7.

Inborn errors of cobalamin absorption and metabolism.

Watkins D, Rosenblatt DS.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):33-44. doi: 10.1002/ajmg.c.30288. Epub 2011 Feb 10.

PMID:
21312325
[PubMed - indexed for MEDLINE]
8.

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Carrillo-Carrasco N, Chandler RJ, Venditti CP.

J Inherit Metab Dis. 2012 Jan;35(1):91-102. doi: 10.1007/s10545-011-9364-y. Epub 2011 Jul 12. Review.

PMID:
21748409
[PubMed - indexed for MEDLINE]
9.

A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.

Wang X, Sun W, Yang Y, Jia J, Li C.

J Neurol Sci. 2012 Jul 15;318(1-2):155-9. doi: 10.1016/j.jns.2012.04.012. Epub 2012 May 4.

PMID:
22560872
[PubMed - indexed for MEDLINE]
10.

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Morel CF, Lerner-Ellis JP, Rosenblatt DS.

Mol Genet Metab. 2006 Aug;88(4):315-21. Epub 2006 May 22.

PMID:
16714133
[PubMed - indexed for MEDLINE]
11.

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).

Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.

Hum Mutat. 2007 Oct;28(10):1045.

PMID:
17823972
[PubMed - indexed for MEDLINE]
12.

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.

J Inherit Metab Dis. 2007 Oct;30(5):811. Epub 2007 Sep 4.

PMID:
17768669
[PubMed - indexed for MEDLINE]
13.

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR.

J Inherit Metab Dis. 1997 Aug;20(4):528-38.

PMID:
9266389
[PubMed - indexed for MEDLINE]
14.

[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].

Urbón Artero A, Aldana Gómez J, Reig Del Moral C, Nieto Conde C, Merinero Cortés B.

An Esp Pediatr. 2002 Apr;56(4):337-41. Spanish.

PMID:
11927078
[PubMed - indexed for MEDLINE]
15.
16.

Characterization of functional domains of the cblD (MMADHC) gene product.

Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR.

J Inherit Metab Dis. 2014 Sep;37(5):841-9. doi: 10.1007/s10545-014-9709-4. Epub 2014 Apr 11.

PMID:
24722857
[PubMed - in process]
17.

Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.

Roze E, Gervais D, Demeret S, Ogier de Baulny H, Zittoun J, Benoist JF, Said G, Pierrot-Deseilligny C, Bolgert F.

Arch Neurol. 2003 Oct;60(10):1457-62.

PMID:
14568819
[PubMed - indexed for MEDLINE]
18.

Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.

Merinero B, Pérez-Cerdá C, Garcia MJ, Chadefaux-Vekemans B, Kamoun P, Tonetti C, Zittoun J, Jakobs C, Ugarte M.

Prenat Diagn. 1998 Sep;18(9):947-52.

PMID:
9793978
[PubMed - indexed for MEDLINE]
19.

Causes of and diagnostic approach to methylmalonic acidurias.

Fowler B, Leonard JV, Baumgartner MR.

J Inherit Metab Dis. 2008 Jun;31(3):350-60. doi: 10.1007/s10545-008-0839-4. Epub 2008 Jun 19. Review.

PMID:
18563633
[PubMed - indexed for MEDLINE]
20.

Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.

Tsina EK, Marsden DL, Hansen RM, Fulton AB.

Arch Ophthalmol. 2005 Aug;123(8):1143-6. No abstract available.

PMID:
16087854
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk