187 related articles for article (PubMed ID: 19821145)
1. Hydroxocobalamin dose escalation improves metabolic control in cblC.
Carrillo-Carrasco N; Sloan J; Valle D; Hamosh A; Venditti CP
J Inherit Metab Dis; 2009 Dec; 32(6):728-731. PubMed ID: 19821145
[TBL] [Abstract][Full Text] [Related]
2. Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.
Matos IV; Castejón E; Meavilla S; O'Callaghan M; Garcia-Villoria J; López-Sala A; Ribes A; Artuch R; Garcia-Cazorla A
Mol Genet Metab; 2013 Aug; 109(4):360-5. PubMed ID: 23746552
[TBL] [Abstract][Full Text] [Related]
3. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Demaret T; Bédard K; Soucy JF; Watkins D; Allard P; Levtova A; O'Brien A; Brunel-Guitton C; Rosenblatt DS; Mitchell GA
Mol Genet Metab; 2024 May; 142(1):108345. PubMed ID: 38387306
[TBL] [Abstract][Full Text] [Related]
4. Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Han B; Cao Z; Tian L; Zou H; Yang L; Zhu W; Liu Y
Brain Dev; 2016 May; 38(5):491-7. PubMed ID: 26563984
[TBL] [Abstract][Full Text] [Related]
5. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Scalais E; Geron C; Pierron C; Cardillo S; Schlesser V; Mataigne F; Borde P; Regal L
Mol Genet Metab; 2023 Nov; 140(3):107681. PubMed ID: 37604084
[TBL] [Abstract][Full Text] [Related]
6. The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
Wood WD; Elmaghrabi A; Gotway G; Wolf MTF
Pediatr Nephrol; 2022 Jun; 37(6):1415-1418. PubMed ID: 34854955
[TBL] [Abstract][Full Text] [Related]
7. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Wang F; Han L; Yang Y; Gu X; Ye J; Qiu W; Zhang H; Zhang Y; Gao X; Wang Y
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S435-42. PubMed ID: 20924684
[TBL] [Abstract][Full Text] [Related]
8. High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
Higashimoto T; Kim AY; Ogawa JT; Sloan JL; Almuqbil MA; Carlson JM; Manoli I; Venditti CP; Gunay-Aygun M; Wang T
JIMD Rep; 2020 Jan; 51(1):17-24. PubMed ID: 32071835
[TBL] [Abstract][Full Text] [Related]
9. The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.
Hannibal L; DiBello PM; Yu M; Miller A; Wang S; Willard B; Rosenblatt DS; Jacobsen DW
Mol Genet Metab; 2011 Jul; 103(3):226-39. PubMed ID: 21497120
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Treatment of cobalamin C (cblC) deficiency during pregnancy.
Brunel-Guitton C; Costa T; Mitchell GA; Lambert M
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S409-12. PubMed ID: 20830523
[TBL] [Abstract][Full Text] [Related]
12. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Huang Z; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Ji WJ; Li XY; Gu XF
Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
[TBL] [Abstract][Full Text] [Related]
13. Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period.
Kacpura A; Frigeni M; Gunther K; Farach L
Am J Med Genet A; 2022 Jun; 188(6):1831-1835. PubMed ID: 35156754
[TBL] [Abstract][Full Text] [Related]
14. Hydroxocobalamin for cobalamin C: which dosage?
Wiwanitkit V
J Inherit Metab Dis; 2010 Aug; 33(4):453; author reply 455. PubMed ID: 20224899
[No Abstract] [Full Text] [Related]
15. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Scalais E; Osterheld E; Geron C; Pierron C; Chafai R; Schlesser V; Borde P; Regal L; Laeremans H; van Gassen KLI; van den Heuvel LB; De Meirleir L
JIMD Rep; 2019 Sep; 49(1):70-79. PubMed ID: 31497484
[TBL] [Abstract][Full Text] [Related]
16. Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease.
Elian KM; Hoffer LJ
Metabolism; 2002 Jul; 51(7):881-6. PubMed ID: 12077735
[TBL] [Abstract][Full Text] [Related]
17. Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report.
Hao Q; Jiang B; Zhao Y; Hu Z
BMC Nephrol; 2024 Jan; 25(1):13. PubMed ID: 38178022
[TBL] [Abstract][Full Text] [Related]
18. Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
Bartholomew DW; Batshaw ML; Allen RH; Roe CR; Rosenblatt D; Valle DL; Francomano CA
J Pediatr; 1988 Jan; 112(1):32-9. PubMed ID: 3257264
[TBL] [Abstract][Full Text] [Related]
19. Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.
Dionisi-Vici C; Martinelli D; Ceravolo F; Boenzi S; Pastore A
Mol Genet Metab; 2013 Aug; 109(4):329-30. PubMed ID: 23764205
[No 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]
