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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Fietz M, et al. Among authors: lukacs z. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25. Mol Genet Metab. 2016. PMID: 27553878 Free article.
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: lukacs z. 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
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: lukacs z. 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.
Diagnostic strategy for females suspected of Fabry disease.
Balendran S, Oliva P, Sansen S, Mechtler TP, Streubel B, Cobos PN, Lukacs Z, Kasper DC. Balendran S, et al. Among authors: lukacs z. Clin Genet. 2020 Apr;97(4):655-660. doi: 10.1111/cge.13694. Epub 2020 Jan 7. Clin Genet. 2020. PMID: 31860127
77 results