138 related articles for article (PubMed ID: 37604084)
1. 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]
2. Intracellular processing of vitamin B
Hannibal L; Jacobsen DW
Vitam Horm; 2022; 119():275-298. PubMed ID: 35337623
[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. 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]
5. 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]
6. A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans.
Bito T; Yabuta Y; Ichiyanagi T; Kawano T; Watanabe F
FEBS Open Bio; 2014; 4():722-9. PubMed ID: 25161880
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Sloan JL; Achilly NP; Arnold ML; Catlett JL; Blake T; Bishop K; Jones M; Harper U; English MA; Anderson S; Trivedi NS; Elkahloun A; Hoffmann V; Brooks BP; Sood R; Venditti CP
Hum Mol Genet; 2020 Aug; 29(13):2109-2123. PubMed ID: 32186706
[TBL] [Abstract][Full Text] [Related]
9. Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
Froese DS; Healy S; McDonald M; Kochan G; Oppermann U; Niesen FH; Gravel RA
Mol Genet Metab; 2010 May; 100(1):29-36. PubMed ID: 20219402
[TBL] [Abstract][Full Text] [Related]
10. Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP; Thompson AH; Sloan JL; Manoli I; Carrillo-Carrasco N; Zein WM; Venditti CP
Ophthalmology; 2016 Mar; 123(3):571-82. PubMed ID: 26825575
[TBL] [Abstract][Full Text] [Related]
11. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Collison FT; Xie YA; Gambin T; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Fishman GA; Allikmets R
Ophthalmic Genet; 2015; 36(3):270-5. PubMed ID: 25687216
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S; Brezzi B; Bracciamà V; Barreca A; Nozza P; Vaisitti T; Amoroso A; Deaglio S; Manganaro M; Porta F; Spada M
Orphanet J Rare Dis; 2022 Feb; 17(1):33. PubMed ID: 35109910
[TBL] [Abstract][Full Text] [Related]
15. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N; Chandler RJ; Venditti CP
J Inherit Metab Dis; 2012 Jan; 35(1):91-102. PubMed ID: 21748409
[TBL] [Abstract][Full Text] [Related]
16. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA; Ng JK; Karr DJ; Reznick L; Harding CO; Weleber RG; Pennesi ME
Ophthalmic Genet; 2016 Dec; 37(4):404-414. PubMed ID: 26979128
[TBL] [Abstract][Full Text] [Related]
17. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
Fofou-Caillierez MB; Mrabet NT; Chéry C; Dreumont N; Flayac J; Pupavac M; Paoli J; Alberto JM; Coelho D; Camadro JM; Feillet F; Watkins D; Fowler B; Rosenblatt DS; Guéant JL
Hum Mol Genet; 2013 Nov; 22(22):4591-601. PubMed ID: 23825108
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The human B
Li Z; Gouda H; Pillay S; Yaw M; Ruetz M; Banerjee R
Methods Enzymol; 2022; 668():137-156. PubMed ID: 35589192
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
