- Email: [email protected]
Molecular Genetics and Metabolism Reports
Contents lists available at ScienceDirect
Molecular Genetics and Metabolism Reports j o u r n a l h o m e p a g e : h t t p : / / w w w. j o u r n a l s. e l s ev i e r. c o m / m o l e c u l a r - g e n e t i c s - a n d metabolism-reports/
CONTENTS Volume 8, 2016 RESEARCH PAPER 80 Bone mineral density in mucopolysaccharidosis IVB Francyne Kubaski, Heidi H. Kecskemethy, H. Theodore Harcke and Shunji Tomatsu CASE REPORT 111 Pregnancy in patients with mucopolysaccharidosis: a case series Fiona J. Stewart, Andrew Bentley, Barbara K. Burton, Nathalie Guffon, Susan L. Hale, Paul R.Harmatz, Susanne G. Kircher, Pavan K. Kochhar, John J. Mitchell, Ursula Plöckinger, Sue Graham, Stephen Sande, Zlatko Sisic and Tracey A. Johnston
Volume 9, 2016 RESEARCH PAPERS 25 Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial Rebecca Pleat, Timothy M. Cox, T. Andrew Burrow, Pilar Giraldo, Ozlem Goker-Alpan, Barry E. Rosenbloom, Laura R. Croal, Lisa H. Underhill, Sebastiaan J.M. Gaemers and M. Judith Peterschmitt 98
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama and Yoh Umeda
CASE REPORT 42 30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case J. Do Cao, A. Wiedemann, T. Quinaux, S.F. Battaglia-Hsu, L.Mainard, R. Froissart, C. Bonnemains, S. Ragot, B. Leheup, P. Journeau and F. Feillet
Volume 10, 2017 RESEARCH PAPERS 1 Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, Helmut Tegetmeyer, Jens Heichel, Petra Nickel, Johannes R Lemke, Steffen Syrbe and Skadi Beblo
122
61
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N. Semyachkina, Victoria Y. Voinova, Susan Richards, Gerald F. Cox and Yong Xue
75
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II Lynda E. Polgreen, Alicia Kunin-Batson, Kyle Rudser, Richard K. Vehe, Jeanine Jarnes Utz, Chester B. Whitley and Patricia Dickson
Molecular Genetics and Metabolism Reports j o u r n a l h o m e p a g e : h t t p : / / w w w. j o u r n a l s. e l s ev i e r. c o m / m o l e c u l a r - g e n e t i c s - a n d metabolism-reports/
CONTENTS Volume 8, 2016 RESEARCH PAPER 80 Bone mineral density in mucopolysaccharidosis IVB Francyne Kubaski, Heidi H. Kecskemethy, H. Theodore Harcke and Shunji Tomatsu CASE REPORT 111 Pregnancy in patients with mucopolysaccharidosis: a case series Fiona J. Stewart, Andrew Bentley, Barbara K. Burton, Nathalie Guffon, Susan L. Hale, Paul R.Harmatz, Susanne G. Kircher, Pavan K. Kochhar, John J. Mitchell, Ursula Plöckinger, Sue Graham, Stephen Sande, Zlatko Sisic and Tracey A. Johnston
Volume 9, 2016 RESEARCH PAPERS 25 Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial Rebecca Pleat, Timothy M. Cox, T. Andrew Burrow, Pilar Giraldo, Ozlem Goker-Alpan, Barry E. Rosenbloom, Laura R. Croal, Lisa H. Underhill, Sebastiaan J.M. Gaemers and M. Judith Peterschmitt 98
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama and Yoh Umeda
CASE REPORT 42 30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case J. Do Cao, A. Wiedemann, T. Quinaux, S.F. Battaglia-Hsu, L.Mainard, R. Froissart, C. Bonnemains, S. Ragot, B. Leheup, P. Journeau and F. Feillet
Volume 10, 2017 RESEARCH PAPERS 1 Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, Helmut Tegetmeyer, Jens Heichel, Petra Nickel, Johannes R Lemke, Steffen Syrbe and Skadi Beblo
122
61
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N. Semyachkina, Victoria Y. Voinova, Susan Richards, Gerald F. Cox and Yong Xue
75
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II Lynda E. Polgreen, Alicia Kunin-Batson, Kyle Rudser, Richard K. Vehe, Jeanine Jarnes Utz, Chester B. Whitley and Patricia Dickson