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Items: 1 to 20 of 123

1.

A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.

Armour CM, Brebner A, Watkins D, Geraghty MT, Chan A, Rosenblatt DS.

Pediatrics. 2013 Jul;132(1):e257-61. doi: 10.1542/peds.2013-0105. Epub 2013 Jun 17.

2.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS.

Mol Genet Metab. 2012 Dec;107(4):664-8. doi: 10.1016/j.ymgme.2012.10.005. Epub 2012 Oct 16.

PMID:
23141461
3.

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
4.

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Höhne W, Gasnier B, Rosenblatt DS, Fowler B, Nürnberg P.

Nat Genet. 2009 Feb;41(2):234-9. doi: 10.1038/ng.294. Epub 2009 Jan 11.

PMID:
19136951
5.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR.

J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1.

PMID:
28572511
6.

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

Gailus S, Suormala T, Malerczyk-Aktas AG, Toliat MR, Wittkampf T, Stucki M, Nürnberg P, Fowler B, Hennermann JB, Rutsch F.

J Inherit Metab Dis. 2010 Feb;33(1):17-24. doi: 10.1007/s10545-009-9032-7. Epub 2010 Feb 3.

PMID:
20127417
7.

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.

8.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.

Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17.

10.

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

Miousse IR, Watkins D, Rosenblatt DS.

Mol Genet Metab. 2011 Apr;102(4):505-7. doi: 10.1016/j.ymgme.2011.01.002. Epub 2011 Jan 14.

PMID:
21303734
11.

[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].

Huang Z, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Ji WJ, Li XY, Gu XF.

Zhonghua Er Ke Za Zhi. 2013 Mar;51(3):194-8. Chinese.

PMID:
23751581
12.

Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.

Gailus S, Höhne W, Gasnier B, Nürnberg P, Fowler B, Rutsch F.

J Mol Med (Berl). 2010 May;88(5):459-66. doi: 10.1007/s00109-010-0601-x. Epub 2010 Feb 20. Review.

PMID:
20174775
13.

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

Campbell CD, Ganesh J, Ficicioglu C.

Haematologica. 2005 Dec;90(12 Suppl):ECR45.

14.

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):160-71.

PMID:
16150626
15.

[Diagnosis and treatment of isolated methylmalonic acidemia].

Han LS, Wu SN, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Li XY, Xu H, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):589-93. doi: 10.3760/cma.j.issn.1003-9406.2013.05.018. Chinese.

PMID:
24078577
16.

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
17.

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

Schuh S, Rosenblatt DS, Cooper BA, Schroeder ML, Bishop AJ, Seargeant LE, Haworth JC.

N Engl J Med. 1984 Mar 15;310(11):686-90.

PMID:
6700644
18.

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

Bartholomew DW, Batshaw ML, Allen RH, Roe CR, Rosenblatt D, Valle DL, Francomano CA.

J Pediatr. 1988 Jan;112(1):32-9.

PMID:
3257264
19.

Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.

Oladipo O, Rosenblatt DS, Watkins D, Miousse IR, Sprietsma L, Dietzen DJ, Shinawi M.

Pediatrics. 2011 Dec;128(6):e1636-40. doi: 10.1542/peds.2010-3518. Epub 2011 Nov 7.

PMID:
22065268
20.

Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.

Ampola MG, Mahoney MJ, Nakamura E, Tanaka K.

N Engl J Med. 1975 Aug 14;293(7):313-7.

PMID:
239344

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