Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

por Clarke, Lorne A., Dickson, Patricia, Ellinwood, N. Matthew, Klein, Terri L.
Publicado en Int J Neonatal Screen (2020)

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

por Cox, Gerald F., Clarke, Lorne A., Giugliani, Roberto, McGovern, Margaret M.
Publicado en JIMD Rep (2018)

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 en Am J Med Genet A (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 en BMC Med Genet (2016)

Characterization of an MPS I-H Knock-In Mouse that Carries a Nonsense Mutation Analogous to the Human IDUA-W402X Mutation

por Wang, Dan, Shukla, Charu, Liu, Xiaoli, Schoeb, Trenton R., Clarke, Lorne A., Bedwell, David M., Keeling, Kim M.
Publicado 2010

Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

por Howell, Neil, Oostra, Roelof-Jan, Bolhuis, Piet A., Spruijt, Liesbeth, Clarke, Lorne A., Mackey, David A., Preston, Gwen, Herrnstadt, Corinna
Publicado 2003

Imaging of enzyme replacement therapy using PET

por Phenix, Christopher P., Rempel, Brian P., Colobong, Karen, Doudet, Doris J., Adam, Michael J., Clarke, Lorne A., Withers, Stephen G.
Publicado 2010

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

por Dawson, Paul A., Russell, Christopher S., Lee, Soohyun, McLeay, Sarah C., van Dongen, Jacobus M., Cowley, David M., Clarke, Lorne A., Markovich, Daniel
Publicado 2010

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 en Clin Genet (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

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

por He, Xu, Galpin, Jason D, Tropak, Michael B, Mahuran, Don, Haselhorst, Thomas, von Itzstein, Mark, Kolarich, Daniel, Packer, Nicolle H, Miao, Yansong, Jiang, Liwen, Grabowski, Gregory A, Clarke, Lorne A, Kermode, Allison R
Publicado 2011

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 en PLoS One (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