318 related articles for article (PubMed ID: 16251179)
1. 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]
2. [Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria].
Rogé Canales M; Rodrigo Gonzalo de Liria C; Prats Viñas LJ; Vaquero Pérez M; Ribes Rubió A; Rodés Monegal M; Pintos Morell G
An Esp Pediatr; 1996 Jul; 45(1):97-8. PubMed ID: 8849144
[No Abstract] [Full Text] [Related]
3. 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. PubMed ID: 1468456
[TBL] [Abstract][Full Text] [Related]
4. Cobalamin C defect associated with hemolytic-uremic syndrome.
Geraghty MT; Perlman EJ; Martin LS; Hayflick SJ; Casella JF; Rosenblatt DS; Valle D
J Pediatr; 1992 Jun; 120(6):934-7. PubMed ID: 1593355
[TBL] [Abstract][Full Text] [Related]
5. Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.
Baumgartner ER; Wick H; Maurer R; Egli N; Steinmann B
Helv Paediatr Acta; 1979; 34(5):465-82. PubMed ID: 528229
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.
Baumgartner ER; Wick H; Linnell JC; Gaull GE; Bachmann C; Steinmann B
Helv Paediatr Acta; 1979; 34(5):483-96. PubMed ID: 43301
[TBL] [Abstract][Full Text] [Related]
9. Gene discovery in methylmalonic aciduria and homocystinuria.
Thiele J; Van Raamsdonk JM
Clin Genet; 2006 May; 69(5):402-3. PubMed ID: 16650077
[No Abstract] [Full Text] [Related]
10. [Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].
Chenel C; Wood C; Gourrier E; Zittoun J; Casadevall I; Ogier H
Arch Fr Pediatr; 1993 Nov; 50(9):749-54. PubMed ID: 8060203
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian.
Higginbottom MC; Sweetman L; Nyhan WL
N Engl J Med; 1978 Aug; 299(7):317-23. PubMed ID: 683264
[TBL] [Abstract][Full Text] [Related]
13. [Neonatal hemolytic and uremic syndrome, methylmalonic aciduria and homocystinuria due to intracellular vitamin B12 deficiency].
Cerone R; Barbano G; Maritano L; Perfumo F; Caruso U; Gusmano G; Romano C
Arch Pediatr; 1994 Aug; 1(8):762-3. PubMed ID: 7842113
[No Abstract] [Full Text] [Related]
14. 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]
15. Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Cerone R; Schiaffino MC; Caruso U; Lupino S; Gatti R
J Inherit Metab Dis; 1999 May; 22(3):247-50. PubMed ID: 10384379
[No Abstract] [Full Text] [Related]
16. 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]
17. 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; 358(14):1454-64. PubMed ID: 18385497
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. 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]
20. 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. PubMed ID: 24210589
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
