Results 61 to 70 of about 8,804 (200)

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Gene Therapy Developments for Pompe Disease [PDF]

, 2022
Pompe disease is an inherited neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The most severe form is infantile-onset Pompe disease, presenting shortly after birth with symptoms of cardiomyopathy ...
Niek P. van Til, Yoon, John K, Schindler, Jeffrey W, Mason, Chris, John K. Yoon, Zeenath Unnisa, Jeffrey W. Schindler, Chris Mason, Unnisa, Zeenath, van Til, Niek P   +9 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. [PDF]

, 2014
Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in late-onset Pompe disease is moderately effective. Little is known about the clinical course after treatment termination and the resumption of ERT. In Switzerland, rhGAA
Hundsberger, Thomas, Rösler, Kai Michael, Findling, Oliver   +2 more
core   +1 more source

Modular Molecular Design and Self‐Assembled Nanostructures of Saccharide‑Appended Cyclic Dipeptides for Glycosidase‑Responsive Supramolecular Hydrogels

Small, EarlyView.
Saccharide‐appended cyclic dipeptides are designed and developed as building blocks for glycosidase‐responsive supramolecular hydrogels. Their aqueous self‐assembly enables β‐galactosidase‐triggered gel‐to‐sol and neuraminidase‐triggered sol‐to‐gel transition systems, highlighting their potential as glycosidase‐responsive soft materials for biomedical ...
Shintaro Sugiura, Ryuta Tanaka, Sayuri L. Higashi, Aya Shibata, Koichiro M. Hirosawa, Kenichi G. N. Suzuki, Masato Ikeda   +6 more
wiley   +1 more source

Pompe disease: genetics and management

, 2020
Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the lysosomal hydrolase acid alpha-glucosidase, resulting in accumulation of glycogen in various tissues.
Fidani, Liana, Papadopoulou, Konstantina
core   +1 more source

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

Cardiac involvement in adults with Pompe disease [PDF]

, 2008
Background. Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid α- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure.
Dalen, B.M. (Bas) van, Nemes, A. (Attila), van Dalen, Bas, Vletter, W.B. (Wim), van Doorn, Pieter; id_orcid, Nemes, A (Attila), Soliman, O.I.I. (Osama Ibrahim Ibrahim), van der Ploeg, Ans, Vletter, Wim, van Doorn, Pieter, Doorn, P.A. (Pieter) van, Soliman, Osama, van Dalen, Bas; id_orcid, Cate, F.J. (Folkert) ten, Beek, N.A.M.E. (Nadine) van der, Geleijnse, M.L. (Marcel), Ploeg, A.T. (Ans) van der, ten Cate, Folkert, van der Beek, N.A.M.E., Geleijnse, Marcel   +19 more
core   +1 more source

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel, Mechteld E. Guldemond, Kevin R. Keene, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hermien E. Kan, Nadine A. M. E. van der Beek   +7 more
wiley   +1 more source

Pompe disease gene therapy

, 2011
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation.
Elder, Melissa E, Byrne, Barry j, Islam, Saleem, Conlon, Thomas J, Clement, Nathalie, Falk, Darin J, Nayak, Sushrusha, Pacak, Christina A, Herzog, Roland W, Collins, Shelley W   +9 more
core   +2 more sources