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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Vanier MT, et al. Among authors: welford rw. Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Mol Genet Metab. 2016. PMID: 27339554 Free article. Review.
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC. Bauer P, et al. Among authors: welford rw. Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773996 Free PMC article.
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.
Welford RWD, Farine H, Steiner M, Garzotti M, Dobrenis K, Sievers C, Strasser DS, Amraoui Y, Groenen PMA, Giugliani R, Mengel E. Welford RWD, et al. Mol Genet Metab Rep. 2022 Feb 1;30:100843. doi: 10.1016/j.ymgmr.2022.100843. eCollection 2022 Mar. Mol Genet Metab Rep. 2022. PMID: 35242574 Free PMC article.
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