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Congenital NAD deficiency disorder

MedGen UID:
910915
Concept ID:
CN241975
Finding

Professional guidelines

PubMed

Waqas SF, Sohail A, Nguyen AHH, Usman A, Ludwig T, Wegner A, Malik MNH, Schuchardt S, Geffers R, Winterhoff M, Merkert S, Martin U, Olmer R, Lachmann N, Pessler F
Clin Transl Med 2022 Jul;12(7):e931. doi: 10.1002/ctm2.931. PMID: 35842904Free PMC Article
Kiritsi D, Schauer F, Wölfle U, Valari M, Bruckner-Tuderman L, Has C, Happle R
Orphanet J Rare Dis 2014 Mar 7;9:33. doi: 10.1186/1750-1172-9-33. PMID: 24607067Free PMC Article

Recent clinical studies

Etiology

Mark PR
Am J Med Genet A 2022 Sep;188(9):2834-2849. Epub 2022 Apr 29 doi: 10.1002/ajmg.a.62764. PMID: 35484986Free PMC Article
Lin J, Zhao L, Zhao S, Li S, Zhao Z, Chen Z, Zheng Z, Shao J, Niu Y, Li X, Zhang JT, Wu Z, Wu N
Genes (Basel) 2021 Oct 14;12(10) doi: 10.3390/genes12101615. PMID: 34681008Free PMC Article

Diagnosis

Erbs E, Brasen CL, Lund AM, Rasmussen M
Eur J Med Genet 2023 Mar;66(3):104698. Epub 2023 Jan 14 doi: 10.1016/j.ejmg.2023.104698. PMID: 36649848
Kortbawi H, Ames E, Pritchard A, Devine P, van Ziffle J, Slavotinek A
Am J Med Genet A 2022 Aug;188(8):2479-2484. Epub 2022 May 2 doi: 10.1002/ajmg.a.62765. PMID: 35491967
Mark PR
Am J Med Genet A 2022 Sep;188(9):2834-2849. Epub 2022 Apr 29 doi: 10.1002/ajmg.a.62764. PMID: 35484986Free PMC Article

Prognosis

Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL
J Clin Invest 2024 Feb 15;134(4) doi: 10.1172/JCI174824. PMID: 38357931Free PMC Article

Clinical prediction guides

Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL
J Clin Invest 2024 Feb 15;134(4) doi: 10.1172/JCI174824. PMID: 38357931Free PMC Article

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