Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

por Clarke, Lorne A., Dickson, Patricia, Ellinwood, N. Matthew, Klein, Terri L.
Publicado 2020

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

por Viskochil, David, Clarke, Lorne A., Bay, Luisa, Keenan, Hillary, Muenzer, Joseph, Guffon, Nathalie
Publicado 2019

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

por Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
Publicado 2016

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry

por Polgreen, Lynda E., Bay, Luisa, Clarke, Lorne A., Guffon, Nathalie, Jones, Simon A., Muenzer, Joseph, Flores, Ana Lorena, Wilson, Kathryn, Viskochil, David
Publicado 2022

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

por Clarke, Lorne A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Keenan, Hillary A., Munoz‐Rojas, Maria V., Okuyama, Torayuki, Viskochil, David, Whitley, Chester B., Wijburg, Frits A., Muenzer, Joseph
Publicado 2019

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

por Lachman, Ralph S., Burton, Barbara K., Clarke, Lorne A., Hoffinger, Scott, Ikegawa, Shiro, Jin, Dong-Kyu, Kano, Hiroki, Kim, Ok-Hwa, Lampe, Christina, Mendelsohn, Nancy J., Shediac, Renée, Tanpaiboon, Pranoot, White, Klane K.
Publicado 2014

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications

por Cook, Courtney B., Armstrong, Linlea, Boerkoel, Cornelius F., Clarke, Lorne A., du Souich, Christèle, Demos, Michelle K., Gibson, William T., Gill, Harinder, Lopez, Elena, Patel, Millan S., Selby, Kathryn, Abu-Sharar, Ziad, Elliott, Alison M., Friedman, Jan M.
Publicado 2021

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

por Wijburg, Frits A., Bénichou, Bernard, Bichet, Daniel G., Clarke, Lorne A., Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J., Mauer, Michael, Najafian, Behzad, Scott, C. Ronald, Shankar, Suma P., Thurberg, Beth L., Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma
Publicado 2015

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

por de Ru, Minke H, Teunissen, Quirine GA, van der Lee, Johanna H, Beck, Michael, Bodamer, Olaf A, Clarke, Lorne A, Hollak, Carla E, Lin, Shuan-Pei, Rojas, Maria-Verónica Muñoz, Pastores, Gregory M, Raiman, Julian A, Scarpa, Maurizio, Treacy, Eileen P, Tylki-Szymanska, Anna, Wraith, J Edmond, Zeman, Jiri, Wijburg, Frits A
Publicado 2012