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Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J. Shanti B, et al. Among authors: fietz m. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S241-51. doi: 10.1007/s10545-009-1180-2. Epub 2009 Apr 27. J Inherit Metab Dis. 2009. PMID: 19396570
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.
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
Diagnosing mucopolysaccharidosis IVA.
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. Among authors: fietz m. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.
63 results