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Orphanet Journal of Rare Diseases|April 19, 2015
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type CSimona Fecarotta, Alfonso Romano, Roberto Della Casa, et al.
British Journal of Clinical Pharmacology|October 4, 2018
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)Edward C Hsiao, Maja Di Rocco, Amanda Cali, et al.
Bone|September 4, 2017
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans ProgressivaNeal Mantick, Eric Bachman, Genevieve Baujat, et al.
Bone|December 3, 2014
Lack of prolidase causes a bone phenotype both in human and in mouseRoberta Besio, Silvia Maruelli, Roberta Gioia, et al.
Internal Medicine Journal|November 11, 2018
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiativeAtul Mehta, David J Kuter, Sam S Salek, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 5, 2016
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapyShaalee Dworski, Ping Lu, Aneal Khan, et al.
Nature Genetics|March 2, 2010
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationAndrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, et al.
Human Gene Therapy|May 3, 2022
Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and ObstaclesElisabeth M W Eekhoff, Ruben D de Ruiter, Bernard J Smilde, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, et al.
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