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Molecular Therapy : the Journal of the American Society of Gene Therapy|July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapyGiancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.Human Mutation|October 31, 2006
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionPetr Vyletal, Jitka Sokolová, David N Cooper, et al.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.Journal of Inherited Metabolic Disease|October 26, 2016
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiencyAndrew A M Morris, Viktor Kožich, Saikat Santra, et al.Seminars in Hematology|October 7, 2004
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal J Weinreb, Mario C Aggio, Hans C Andersson, et al.Molecular Biosystems|February 18, 2015
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolismEmanuela Scolamiero, Carla Cozzolino, Lucia Albano, et al.American Journal of Human Genetics|December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityEric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.NEJM Evidence|February 6, 2024
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VINicola Brunetti-Pierri, Rita Ferla, Virginia Maria Ginocchio, et al.Pageof 9