202 related articles for article (PubMed ID: 1593355)
1. 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]
2. Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.
Gold R; Bogdahn U; Kappos L; Toyka KV; Baumgartner ER; Fowler B; Wendel U
J Neurol Neurosurg Psychiatry; 1996 Jan; 60(1):107-8. PubMed ID: 8558138
[No Abstract] [Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. [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]
7. 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]
8. 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]
9. 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. PubMed ID: 7425038
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [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]
12. Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
Menni F; Testa S; Guez S; Chiarelli G; Alberti L; Esposito S
Pediatr Nephrol; 2012 Aug; 27(8):1401-5. PubMed ID: 22447314
[TBL] [Abstract][Full Text] [Related]
13. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
Chang JT; Chen YY; Liu TT; Liu MY; Chiu PC
Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. [Combined methylmalonic acidemia and homocystinuria; a case report].
Jiménez Varo I; Bueno Delgado M; Dios Fuentes E; Delgado Pecellin C; González Meneses A; Soto Moreno A; Venegas Moreno E
Nutr Hosp; 2015 Apr; 31(4):1885-8. PubMed ID: 25795986
[TBL] [Abstract][Full Text] [Related]
19. An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.
Francis PJ; Calver DM; Barnfield P; Turner C; Dalton RN; Champion MP
Eur J Pediatr; 2004 Jul; 163(7):420-1. PubMed ID: 15221473
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]
