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Pediatric Rheumatology Online Journal|October 27, 2009
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosisRolando Cimaz, Giovanni Valentino Coppa, Isabelle Koné-Paut, et al.
Journal of Genetic Counseling|May 9, 2003
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic CounselorsRobin L Bennett, Kimberly A Hart, Erin O'Rourke, et al.
American Journal of Hematology|April 23, 2016
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imigluceraseGregory M Pastores, Suma P Shankar, Milan Petakov, et al.
American Journal of Hematology|July 22, 2016
Glucosylsphingosine is a key biomarker of Gaucher diseaseVagishwari Murugesan, Wei-Lien Chuang, Jun Liu, et al.
The Journal of Pediatrics|January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry diseaseRaphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Neurology. Genetics|April 29, 2016
Clinical course and prognosis in patients with Gaucher disease and parkinsonismGrisel Lopez, Jenny Kim, Edythe Wiggs, et al.
American Journal of Hematology|March 5, 2009
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patientsTamar H Taddei, Katherine A Kacena, Mei Yang, et al.
Blood Cells, Molecules & Diseases|May 20, 2014
Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatmentElena Lukina, Nora Watman, Marta Dragosky, et al.
Ebiomedicine|February 4, 2018
Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher DiseaseJinlong Jian, Yuehong Chen, Rossella Liberti, et al.
Journal of Child Neurology|January 20, 2009
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher diseaseAviva Fattal-Valevski, Miriam S DiMaio, Fuki M Hisama, et al.
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