The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I
Publication date: Available online 21 July 2020Source: Molecular Genetics and MetabolismAuthor(s): A. Broomfield, J. Sims, J. Mercer, P. Hensman, A. Ghosh, K. Tylee, K.M. Stepien, A. Oldham, N. Prathivadi Bhayankaram, R. Wynn, N.B. Wright, S.A. Jones, S. Wilkinson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 21, 2020 Category: Genetics & Stem Cells Source Type: research
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial
Publication date: Available online 16 July 2020Source: Molecular Genetics and MetabolismAuthor(s): Christine Í. Dali, Caroline Sevin, Ingeborg Krägeloh-Mann, Roberto Giugliani, Norio Sakai, James Wu, Margaret Wasilewski (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 16, 2020 Category: Genetics & Stem Cells Source Type: research
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
Publication date: Available online 7 July 2020Source: Molecular Genetics and MetabolismAuthor(s): Heiko Brennenstuhl, Sven F. Garbade, Jürgen G. Okun, Patrik Feyh, Georg F. Hoffmann, Claus-Dieter Langhans, Thomas Opladen (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research
Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
Publication date: Available online 8 July 2020Source: Molecular Genetics and MetabolismAuthor(s): C. Bascunana, J. El Helou, F.T. Rauch, G. Bardai, F.H. Glorieux, J.-B. Riviere, P. Byers, P.B. Kaplan, D.S. Rosenblatt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: August 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: August 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2020 Category: Genetics & Stem Cells Source Type: research
Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications
Publication date: Available online 27 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Martine Uittenbogaard, Anne Chiaramello (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 28, 2020 Category: Genetics & Stem Cells Source Type: research
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, Alberto Burlina, Carla Carducci, Claudia Carducci, Maria Alice Donati, Daniela Gueraldi, Sabrina Paci, Francesca Pochiero, Francesco Porta, Rita Ortolano, Valentina Rovelli, Maria Cristina Schiaffino, Marco Spada, Nenad Blau, Vincenzo Leuzzi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Beth L. Thurberg, George A. Diaz, Robin H. Lachmann, Thomas Schiano, Melissa P. Wasserstein, Allena J. Ji, Atef Zaher, M. Judith Peterschmitt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research
Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted gene therapy
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Saori Miwa, Ayako M. Watabe, Yohta Shimada, Takashi Higuchi, Hiroshi Kobayashi, Takahiro Fukuda, Fusao Kato, Hiroyuki Ida, Toya Ohashi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Publication date: Available online 24 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Simon A. Jones, Margaret McGovern, Olivier Lidove, Roberto Giugliani, Pramod K. Mistry, Carlo Dionisi-Vici, Maria-Veronica Munoz-Rojas, Lubomyra Nalysnyk, Alison D. Schecter, Melissa Wasserstein (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2020 Category: Genetics & Stem Cells Source Type: research
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Publication date: Available online 16 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Barbara K. Burton, Nicola Longo, Jerry Vockley, Dorothy K. Grange, Cary O. Harding, Celeste Decker, Mingjin Li, Kelly Lau, Orli Rosen, Kevin Larimore, Janet Thomas, on behalf of the PAL-002 and PAL-004 Investigators (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 17, 2020 Category: Genetics & Stem Cells Source Type: research
A systematic cross-sectional survey of multiple sulfatase deficiency
Publication date: Available online 17 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Gerarda Cappuccio, Marianna Alagia, Nicola Brunetti-Pierri (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 17, 2020 Category: Genetics & Stem Cells Source Type: research
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses
Publication date: Available online 11 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Simon A. Jones, Deborah Marsden, Tony Koutsoukos, Jennifer Sniadecki, Karen Tylee, Sarah Phillippo, Emil Kakkis (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 11, 2020 Category: Genetics & Stem Cells Source Type: research
Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis
Publication date: Available online 8 June 2020Source: Molecular Genetics and MetabolismAuthor(s): A. Crivaro, C. Bondar, J.M. Mucci, M. Ormazabal, R.A. Feldman, M.V. Delpino, P.A. Rozenfeld (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 9, 2020 Category: Genetics & Stem Cells Source Type: research
