Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 150

1.

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
2.

Methylmalonic aciduria and homocystinuria-associated maculopathy.

Francis JH, Rao L, Rosen RB.

Eye (Lond). 2010 Nov;24(11):1731-2. doi: 10.1038/eye.2010.115. Epub 2010 Aug 27. No abstract available.

PMID:
20798691
3.

Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.

Robb RM, Dowton SB, Fulton AB, Levy HL.

Am J Ophthalmol. 1984 Jun;97(6):691-6.

PMID:
6731535
4.

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.

Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME.

Ophthalmic Genet. 2016 Dec;37(4):404-414. Epub 2016 Mar 15.

PMID:
26979128
6.

[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
7.

[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
8.

Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.

Shinnar S, Singer HS.

N Engl J Med. 1984 Aug 16;311(7):451-4. No abstract available.

PMID:
6749192
9.

Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.

Bellini C, Cerone R, Bonacci W, Caruso U, Magliano CP, Serra G, Fowler B, Romano C.

Eur J Pediatr. 1992 Nov;151(11):818-20.

PMID:
1468456
10.

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
11.

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.

Gerth C, Morel CF, Feigenbaum A, Levin AV.

J AAPOS. 2008 Dec;12(6):591-6. doi: 10.1016/j.jaapos.2008.06.008. Epub 2008 Oct 10. Erratum in: J AAPOS. 2009 Apr;13(2):223.

PMID:
18848477
12.

[Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria].

Ueland PM, Schneede J.

Tidsskr Nor Laegeforen. 2008 Mar 13;128(6):690-3. Review. Norwegian.

13.

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria.

Traboulsi EI, Silva JC, Geraghty MT, Maumenee IH, Valle D, Green WR.

Am J Ophthalmol. 1992 Mar 15;113(3):269-80.

PMID:
1543219
14.

A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.

Mamlok RJ, Isenberg JN, Rassin DK, Norcross K, Tallan HH.

Neuropediatrics. 1986 May;17(2):94-9.

PMID:
2873525
15.

Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.

Cornec-Le Gall E, Delmas Y, De Parscau L, Doucet L, Ogier H, Benoist JF, Fremeaux-Bacchi V, Le Meur Y.

Am J Kidney Dis. 2014 Jan;63(1):119-23. doi: 10.1053/j.ajkd.2013.08.031. Epub 2013 Nov 6.

PMID:
24210589
16.

Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

Biancheri R, Cerone R, Rossi A, Schiaffino MC, Caruso U, Minniti G, Perrone MV, Tortori-Donati P, Veneselli E.

Epilepsia. 2002 Jun;43(6):616-22.

17.

EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria.

Bellieni CV, Ferrari F, De Felice C, Bagnoli F, Cioni M, Farnetani M, Gatti MG, Buonocore G.

Biol Neonate. 2000 Nov;78(4):327-30.

PMID:
11093015
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.

Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.

Gaillard MC, Matthieu JM, Borruat FX.

Klin Monbl Augenheilkd. 2008 May;225(5):491-4. doi: 10.1055/s-2008-1027310.

PMID:
18454408
20.

Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.

Cogan DG, Schulman J, Porter RJ, Mudd SH.

Am J Ophthalmol. 1980 Aug;90(2):251-3.

PMID:
7425038

Supplemental Content

Support Center