Proteinuria in a male adolescent with hearing loss: Answers

Waldek S., Feriozzi S., Fabry nephropathy: a review—how can we optimize the management of nephropathy?, BMC Nephrol, 15, pp. 1471-2369, (2014)

Chen H.C., Tsai J.H., Lai Y.H., Guh J.Y., Renal changes in heterozygous Fabry’s disease—a family study, Am J Kidney Dis, 15, pp. 180-183, (1990)

Terryn W., Cochat P., Froissart R., Ortiz A., Pirson Y., Poppe B., Serra A., Van Biesen W., Vanholder R., Wanner C., Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European renal best practice, Nephrol Dial Transplant, 28, pp. 505-517, (2013)

Linthorst G.E., Vedder A.C., Aerts J.M., Hollak C.E., Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers, Clin Chim Acta, 353, pp. 201-203, (2005)

Gal A., Hughes D.A., Winchester B., Toward a consensus in the laboratory diagnostics of Fabry disease—recommendations of a European expert group, J Inherit Metab Dis, 34, pp. 509-514, (2011)

Paschke E., Fauler G., Winkler H., Schlagenhauf A., Plecko B., Erwa W., Breunig F., Urban W., Vujkovac B., Sunder-Plassmann G., Kotanko P., Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study, Am J Kidney Dis, 57, pp. 673-681, (2011)

Selvarajah M., Nicholls K., Hewitson T.D., Becker G.J., Targeted urine microscopy in Anderson–Fabry disease: a cheap, sensitive and specific diagnostic technique, Nephrol Dial Transplant, 26, pp. 3195-3202, (2011)

Germain D.P., Fabry disease, Orphanet J Rare Dis, 5, (2010)

Mehta A., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., Linhart A., Sunder-Plassmann G., Ries M., Beck M., Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey, Eur J Clin Investig, 34, pp. 236-242, (2004)

Ellaway C., Paediatric Fabry disease, Transl Pediatr, 5, pp. 37-42, (2016)

Waldek S., Feriozzi S., Fabry nephropathy: a review—how can we optimize the management of nephropathy?, BMC Nephrol, 15, pp. 1471-2369, (2014)

Chen H.C., Tsai J.H., Lai Y.H., Guh J.Y., Renal changes in heterozygous Fabry’s disease—a family study, Am J Kidney Dis, 15, pp. 180-183, (1990)

Terryn W., Cochat P., Froissart R., Ortiz A., Pirson Y., Poppe B., Serra A., Van Biesen W., Vanholder R., Wanner C., Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European renal best practice, Nephrol Dial Transplant, 28, pp. 505-517, (2013)

Linthorst G.E., Vedder A.C., Aerts J.M., Hollak C.E., Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers, Clin Chim Acta, 353, pp. 201-203, (2005)

Gal A., Hughes D.A., Winchester B., Toward a consensus in the laboratory diagnostics of Fabry disease—recommendations of a European expert group, J Inherit Metab Dis, 34, pp. 509-514, (2011)

Paschke E., Fauler G., Winkler H., Schlagenhauf A., Plecko B., Erwa W., Breunig F., Urban W., Vujkovac B., Sunder-Plassmann G., Kotanko P., Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study, Am J Kidney Dis, 57, pp. 673-681, (2011)

Selvarajah M., Nicholls K., Hewitson T.D., Becker G.J., Targeted urine microscopy in Anderson–Fabry disease: a cheap, sensitive and specific diagnostic technique, Nephrol Dial Transplant, 26, pp. 3195-3202, (2011)

Germain D.P., Fabry disease, Orphanet J Rare Dis, 5, (2010)

Mehta A., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., Linhart A., Sunder-Plassmann G., Ries M., Beck M., Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey, Eur J Clin Investig, 34, pp. 236-242, (2004)

Ellaway C., Paediatric Fabry disease, Transl Pediatr, 5, pp. 37-42, (2016)