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Page 1
The 2021 WHO catalogue of Mycobacterium tuberculosis complex mutations associated with drug resistance: A genotypic analysis.
Walker TM, Miotto P, Köser CU, Fowler PW, Knaggs J, Iqbal Z, Hunt M, Chindelevitch L, Farhat M, Cirillo DM, Comas I, Posey J, Omar SV, Peto TE, Suresh A, Uplekar S, Laurent S, Colman RE, Nathanson CM, Zignol M, Walker AS; CRyPTIC Consortium; Seq&Treat Consortium; Crook DW, Ismail N, Rodwell TC. Walker TM, et al. Lancet Microbe. 2022 Apr;3(4):e265-e273. doi: 10.1016/S2666-5247(21)00301-3. Lancet Microbe. 2022. PMID: 35373160 Free PMC article.
Estimated prevalence of Niemann-Pick type C disease in Quebec.
Labrecque M, Touma L, Bhérer C, Duquette A, Tétreault M. Labrecque M, et al. Sci Rep. 2021 Nov 19;11(1):22621. doi: 10.1038/s41598-021-01966-0. Sci Rep. 2021. PMID: 34799641 Free PMC article.
Niemann-Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. ...
Niemann-Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. ...
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B. Nadjar Y, et al. Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. Orphanet J Rare Dis. 2018. PMID: 30285904 Free PMC article.
BACKGROUND: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. ...
BACKGROUND: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive m …
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.
Touma L, Labrecque M, Tetreault M, Duquette A. Touma L, et al. Sci Rep. 2021 May 14;11(1):10344. doi: 10.1038/s41598-021-89630-5. Sci Rep. 2021. PMID: 33990640 Free PMC article.
Niemann-Pick disease type C (NPC) is a treatable autosomal recessive neurodegenerative condition which leads to a variety of progressive manifestations. ...
Niemann-Pick disease type C (NPC) is a treatable autosomal recessive neurodegenerative condition which leads to a variety of progress …
18 results