293 related articles for article (PubMed ID: 18454408)
1. 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. PubMed ID: 18454408
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 18848477
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 16714133
[TBL] [Abstract][Full Text] [Related]
4. Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
Frattini D; Fusco C; Ucchino V; Tavazzi B; Della Giustina E
Pediatr Neurol; 2010 Aug; 43(2):135-8. PubMed ID: 20610126
[TBL] [Abstract][Full Text] [Related]
5. Optic atrophy in association with cobalamin C (cblC) disease.
Patton N; Beatty S; Lloyd IC; Wraith JE
Ophthalmic Genet; 2000 Sep; 21(3):151-4. PubMed ID: 11035547
[TBL] [Abstract][Full Text] [Related]
6. [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. PubMed ID: 11927078
[TBL] [Abstract][Full Text] [Related]
7. Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
Wu S; Gonzalez-Gomez I; Coates T; Yano S
Pediatr Hematol Oncol; 2005 Dec; 22(8):717-21. PubMed ID: 16251179
[TBL] [Abstract][Full Text] [Related]
8. Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria.
Fuchs LR; Robert M; Ingster-Moati I; Couette L; Dufier JL; de Lonlay P; Brodie SE
J AAPOS; 2012 Aug; 16(4):370-5. PubMed ID: 22929452
[TBL] [Abstract][Full Text] [Related]
9. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD; Morrissey MA; Kirmse BM; Salveson BR; Wasserstein MP; McGuire PJ; Sunny S; Cohen-Pfeffer JL; Yu C; Caggana M; Diaz GA
Mol Genet Metab; 2010 Feb; 99(2):116-23. PubMed ID: 19836982
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 26979128
[TBL] [Abstract][Full Text] [Related]
11. High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.
Profitlich LE; Kirmse B; Wasserstein MP; Diaz GA; Srivastava S
Mol Genet Metab; 2009 Dec; 98(4):344-8. PubMed ID: 19767224
[TBL] [Abstract][Full Text] [Related]
12. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP; Tirone JC; Pawelek PD; Doré C; Atkinson JL; Watkins D; Morel CF; Fujiwara TM; Moras E; Hosack AR; Dunbar GV; Antonicka H; Forgetta V; Dobson CM; Leclerc D; Gravel RA; Shoubridge EA; Coulton JW; Lepage P; Rommens JM; Morgan K; Rosenblatt DS
Nat Genet; 2006 Jan; 38(1):93-100. PubMed ID: 16311595
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 17768669
[TBL] [Abstract][Full Text] [Related]
14. Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.
Gizicki R; Robert MC; Gómez-López L; Orquin J; Decarie JC; Mitchell GA; Roy MS; Ospina LH
Ophthalmology; 2014 Jan; 121(1):381-386. PubMed ID: 24126030
[TBL] [Abstract][Full Text] [Related]
15. 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; 311(7):451-4. PubMed ID: 6749192
[No Abstract] [Full Text] [Related]
16. CblC/D defect combined with haemodynamically highly relevant VSD.
Tomaske M; Bosk A; Heinemann MK; Sieverding L; Baumgartner ER; Fowler B; Trefz FK
J Inherit Metab Dis; 2001 Aug; 24(4):511-2. PubMed ID: 11596656
[TBL] [Abstract][Full Text] [Related]
17. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Weisfeld-Adams JD; Bender HA; Miley-Åkerstedt A; Frempong T; Schrager NL; Patel K; Naidich TP; Stein V; Spat J; Towns S; Wasserstein MP; Peter I; Frank Y; Diaz GA
Mol Genet Metab; 2013 Nov; 110(3):241-7. PubMed ID: 23954310
[TBL] [Abstract][Full Text] [Related]
18. Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Bacci GM; Donati MA; Pasquini E; Munier F; Cavicchi C; Morrone A; Sodi A; Murro V; Garcia Segarra N; Defilippi C; Bussolin L; Caputo R
Acta Ophthalmol; 2017 Dec; 95(8):e776-e782. PubMed ID: 28481040
[TBL] [Abstract][Full Text] [Related]
19. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Nogueira C; Aiello C; Cerone R; Martins E; Caruso U; Moroni I; Rizzo C; Diogo L; Leão E; Kok F; Deodato F; Schiaffino MC; Boenzi S; Danhaive O; Barbot C; Sequeira S; Locatelli M; Santorelli FM; Uziel G; Vilarinho L; Dionisi-Vici C
Mol Genet Metab; 2008 Apr; 93(4):475-80. PubMed ID: 18164228
[TBL] [Abstract][Full Text] [Related]
20. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Froese DS; Zhang J; Healy S; Gravel RA
Mol Genet Metab; 2009 Dec; 98(4):338-43. PubMed ID: 19700356
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
