BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 10472537)

  • 1. Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family.
    Augoustides-Savvopoulou P; Mylonas I; Sewell AC; Rosenblatt DS
    J Inherit Metab Dis; 1999 Aug; 22(6):756-8. PubMed ID: 10472537
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 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. Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).
    Andersson HC; Shapira E
    J Pediatr; 1998 Jan; 132(1):121-4. PubMed ID: 9470012
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. 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]  

  • 7. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
    Enns GM; Barkovich AJ; Rosenblatt DS; Fredrick DR; Weisiger K; Ohnstad C; Packman S
    J Inherit Metab Dis; 1999 Jun; 22(5):599-607. PubMed ID: 10399092
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease.
    Boneh A; Greaves RF; Garra G; Pitt JJ
    Am J Obstet Gynecol; 2002 Jul; 187(1):225-6. PubMed ID: 12114914
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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. PubMed ID: 11093015
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis.
    Al Essa M; Sakati NA; Dabbagh O; Joshi S; Al Jishi EA; Rashed MS; Powe JE; Ozand PT
    J Child Neurol; 1998 May; 13(5):239-43. PubMed ID: 9620017
    [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. 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]  

  • 18. Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.
    Mitchell GA; Watkins D; Melançon SB; Rosenblatt DS; Geoffroy G; Orquin J; Homsy MB; Dallaire L
    J Pediatr; 1986 Mar; 108(3):410-5. PubMed ID: 3950820
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Practical management of combined methylmalonicaciduria and homocystinuria.
    Smith DL; Bodamer OA
    J Child Neurol; 2002 May; 17(5):353-6. PubMed ID: 12150582
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.