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β-Mannosidosis in German Shepherd Dogs.
Jolly RD, Dittmer KE, Garrick DJ, Chernyavtseva A, Hemsley KM, King B, Fietz M, Shackleton NM, Fairley R, Wylie K. Jolly RD, et al. Among authors: fietz m. Vet Pathol. 2019 Sep;56(5):743-748. doi: 10.1177/0300985819839239. Epub 2019 Apr 14. Vet Pathol. 2019. PMID: 30983534
Overcoming the barriers to diagnosis of Morquio A syndrome.
Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, Kim OH, Kosuga M, Kwun YH, Inwood A, Lin HY, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh TH, Yang AD, Lin SP. Bhattacharya K, et al. Among authors: fietz m. Orphanet J Rare Dis. 2014 Nov 30;9:192. doi: 10.1186/s13023-014-0192-7. Orphanet J Rare Dis. 2014. PMID: 25433535 Free PMC article.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M; ClinGen Cardiovascular Clinical Domain Working Group; Cardiomyopathy Variant Curation Expert Panel. Morales A, et al. Among authors: fietz m. J Mol Diagn. 2021 May;23(5):589-598. doi: 10.1016/j.jmoldx.2021.01.014. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631351 Free PMC article.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Lin HY, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J. Choy YS, et al. Among authors: fietz m. Mol Genet Metab. 2015 May;115(1):41-7. doi: 10.1016/j.ymgme.2015.03.005. Epub 2015 Mar 26. Mol Genet Metab. 2015. PMID: 25892708
Expert recommendations for the laboratory diagnosis of MPS VI.
Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P. Wood T, et al. Among authors: fietz m. Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10. Mol Genet Metab. 2012. PMID: 22405600
62 results