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Page 1
Molybdenum Cofactor Deficiency.
Misko A, Mahtani K, Abbott J, Schwarz G, Atwal P. Misko A, et al. 2021 Dec 2 [updated 2023 Feb 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Dec 2 [updated 2023 Feb 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 34870926 Free Books & Documents. Review.
MANAGEMENT: Targeted therapies: In those with MOCS1-related MoCD (MoCD type A), fosdenopterin (NULIBRY()) daily infusion through an indwelling catheter (dose based on weight and age; each vial contains 9.5 mg) may be considered, but must be initiated in a very short …
MANAGEMENT: Targeted therapies: In those with MOCS1-related MoCD (MoCD type A), fosdenopterin (NULIBRY()) daily infusion throu …
Fosdenopterin.
[No authors listed] [No authors listed] Am J Health Syst Pharm. 2021 Jul 9;78(14):1255-1256. doi: 10.1093/ajhp/zxab167. Am J Health Syst Pharm. 2021. PMID: 33973629 No abstract available.
Fosdenopterin: First Approval.
Kang C. Kang C. Drugs. 2021 Jun;81(8):953-956. doi: 10.1007/s40265-021-01520-2. Drugs. 2021. PMID: 33909276 Review.
Fosdenopterin (Nulibry(TM)) is a synthetic cyclic pyranopterin monophosphate that is being developed by Origin Biosciences (a subsidiary of BridgeBio Pharma) for the treatment of molybdenum cofactor deficiency (MoCD) type A. ...This article summarizes the milestones …
Fosdenopterin (Nulibry(TM)) is a synthetic cyclic pyranopterin monophosphate that is being developed by Origin Biosciences (a …
Molybdenum cofactor deficiency.
Atwal PS, Scaglia F. Atwal PS, et al. Mol Genet Metab. 2016 Jan;117(1):1-4. doi: 10.1016/j.ymgme.2015.11.010. Epub 2015 Nov 25. Mol Genet Metab. 2016. PMID: 26653176 Review.
The molybdenum cofactor.
Mendel RR. Mendel RR. J Biol Chem. 2013 May 10;288(19):13165-72. doi: 10.1074/jbc.R113.455311. Epub 2013 Mar 28. J Biol Chem. 2013. PMID: 23539623 Free PMC article. Review.
Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary.
Farrell S, Karp J, Hager R, Wang Y, Adeniyi O, Wang J, Li L, Ma L, Peretz J, Summan M, Kong N, White M, Pacanowski M, Price D, Filie J, Donohue K, Joffe H. Farrell S, et al. J Inherit Metab Dis. 2021 Sep;44(5):1085-1087. doi: 10.1002/jimd.12421. Epub 2021 Aug 8. J Inherit Metab Dis. 2021. PMID: 34337775 Review. No abstract available.
Molybdenum Cofactor Deficiency in Humans.
Johannes L, Fu CY, Schwarz G. Johannes L, et al. Molecules. 2022 Oct 14;27(20):6896. doi: 10.3390/molecules27206896. Molecules. 2022. PMID: 36296488 Free PMC article. Review.
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Schwahn BC, van Spronsen F, Misko A, Pavaine J, Holmes V, Spiegel R, Schwarz G, Wong F, Horman A, Pitt J, Sass JO, Lubout C. Schwahn BC, et al. J Inherit Metab Dis. 2024 Jul;47(4):598-623. doi: 10.1002/jimd.12730. Epub 2024 Apr 16. J Inherit Metab Dis. 2024. PMID: 38627985
One of the four disorders, molybdenum cofactor deficiency type A (MoCD-A) has recently become amenable to causal treatment with synthetic cPMP (fosdenopterin). The evidence base for the rational use of cPMP is very limited. This prompted the formulation of these clinical g …
One of the four disorders, molybdenum cofactor deficiency type A (MoCD-A) has recently become amenable to causal treatment with synthetic cP …
26 results