These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 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]
    of 10.