Zobrazeno 1 - 10
of 23 622
pro vyhledávání: '"GLYCOGEN storage disease"'
Autor:
Ravaglia S; Neuromuscular Unit, IRCCS Fondazione Mondino, Pavia, Italy. sabrina.ravaglia@mondino.it., Gana S; Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy., Valente EM; Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Publikováno v:
Pediatric research [Pediatr Res] 2024 Jul; Vol. 96 (2), pp. 279-280. Date of Electronic Publication: 2024 Mar 21.
Autor:
Gibson RA; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Jeck WR; Department of Pathology, Duke University Medical Center, Durham, NC, USA., Koch RL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Mehta A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Choi SJ; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Sriraman Y; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Bali D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Young S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Asokan A; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA; Department of Surgery, Duke University Medical Center, Durham, NC, USA., Lim JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Kishnani PS; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: priya.kishnani@duke.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Dec; Vol. 143 (4), pp. 108597. Date of Electronic Publication: 2024 Oct 28.
Autor:
Parenti G; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands. parenti@unina.it.; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli, Naples, Italy. parenti@unina.it.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy. parenti@unina.it.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy. parenti@unina.it., Fecarotta S; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy., Alagia M; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy., Attaianese F; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy., Verde A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy.; Azienda Ospedaliera Universitaria Federico II, Naples, Italy., Tarallo A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli, Naples, Italy.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy., Gragnaniello V; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Translational Medical Sciences, University of Naples Federico II, Via S. Pansini 5, Naples, Italy., Ziagaki A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Endocrinology and Metabolism, Center of Excellence for Rare Metabolic Diseases in Adults, Charite-Universitätsmedizin Berlin, Berlin, Germany., Guimaraes MJ; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Pneumology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal., Aguiar P; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Clinica Universitaria de Medicina I, Universidade de Lisboa, Lisbon, Portugal., Hahn A; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Child Neurology, Justus-Liebig University, Giessen, Germany., Azevedo O; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Cardiology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal., Donati MA; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy., Kiec-Wilk B; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Unit of Rare Metabolic Diseases, Jagiellonian University Medical College, Kraków, Poland.; The John Paul II Specjalist Hospital in Kraków, Kraków, Poland., Scarpa M; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Centro Coordinamento Regionale Malattie Rare, Azienda Sanitaria Universitaria del Friuli Centrale, Udine, Italy., van der Beek NAME; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center, Rotterdam, Netherlands., Del Toro Riera M; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Metabolic Unit, Department of Pediatric Neurology, Hospital Universitario Vall d'Hebron Barcelona, Barcelona, Spain., Germain DP; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Division of Medical Genetics, University of Versailles, Montigny, France., Huidekoper H; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van den Hout JMP; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van der Ploeg AT; MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands. a.vanderploeg@erasmusmc.nl.; Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center, Rotterdam, Netherlands. a.vanderploeg@erasmusmc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 01; Vol. 19 (1), pp. 408. Date of Electronic Publication: 2024 Nov 01.
Autor:
Vai S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Falchetti A; Endocrinology Unit, Niguarda Hospital, Milan, Italy., Corbetta S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy., Bianchi ML; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Alberio C; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy., Carrara S; Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy., Gasperini S; Rare Metabolic Diseases Unit, Paediatrics Clinic, IRCCS Foundation San Gerardo Dei Tintori, Monza, Italy., Pretese R; Rare Metabolic Diseases Unit, Paediatrics Clinic, IRCCS Foundation San Gerardo Dei Tintori, Monza, Italy., Parisi L; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy., Teti A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy. annamaria.teti@univaq.it., Maurizi A; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy.
Publikováno v:
Calcified tissue international [Calcif Tissue Int] 2024 Nov; Vol. 115 (5), pp. 661-672. Date of Electronic Publication: 2024 Oct 25.
Autor:
Stalter J; Department of Neurology, Carl Von Ossietzky University Oldenburg, Oldenburg, Germany. Johannes.stalter@uni-oldenburg.de.; University Clinic of Neurology, Evangelical Hospital Oldenburg, Oldenburg, Germany. Johannes.stalter@uni-oldenburg.de., Gies U; Section of Clinical Neuropathology, Klinikum Bremen Mitte, Bremen, Germany., Mathys C; Institute of Radiology and Neuroradiology, Evangelical Hospital Oldenburg, University of Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, Oldenburg, Germany.; Department of Diagnostic and Interventional Radiology, University of Düsseldorf, Düsseldorf, Germany., Witt K; Department of Neurology, Carl Von Ossietzky University Oldenburg, Oldenburg, Germany.; University Clinic of Neurology, Evangelical Hospital Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, Oldenburg, Germany.
Publikováno v:
Journal of medical case reports [J Med Case Rep] 2024 Oct 08; Vol. 18 (1), pp. 465. Date of Electronic Publication: 2024 Oct 08.
Autor:
Mir M; Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran., Rouhani K; Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran., Rouhani K; Student Research Committee, Faculty of Medicine, Mashhad Medical Sciences, Islamic Azad University, Mashhad, Iran., Hassani M; Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran., Damirchi M; Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran., Yazdansetad S; Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran. sajjad.yazdansetad@gmail.com.; Department of Biology, Faculty of Basic Sciences, Imam Hossein Comprehensive University, Tehran, Iran. sajjad.yazdansetad@gmail.com., Aghaei M; Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran. mehrdadaghaie@yahoo.com.
Publikováno v:
Journal of medical case reports [J Med Case Rep] 2024 Oct 08; Vol. 18 (1), pp. 486. Date of Electronic Publication: 2024 Oct 08.
Autor:
Neoh GKS; School of Medicine, Shanghai University, Shanghai 200444, China. Electronic address: galexneoh@shu.edu.cn., Tan X; Centre for Nutrition and Food Sciences, Queensland Alliance for Agriculture and Food Innovation, The University of Queensland, Brisbane, Queensland 4072, Australia; Centre for Animal Science, Queensland Alliance for Agriculture and Food Innovation, The University of Queensland, Brisbane, Queensland 4072, Australia. Electronic address: xinle.tan@uq.edu.au., Chen S; School of Medicine, Shanghai University, Shanghai 200444, China. Electronic address: sisichen@shu.edu.cn., Roura E; Centre for Animal Science, Queensland Alliance for Agriculture and Food Innovation, The University of Queensland, Brisbane, Queensland 4072, Australia. Electronic address: e.roura@uq.edu.au., Dong X; School of Medicine, Shanghai University, Shanghai 200444, China. Electronic address: dongxin@shu.edu.cn., Gilbert RG; Centre for Nutrition and Food Sciences, Queensland Alliance for Agriculture and Food Innovation, The University of Queensland, Brisbane, Queensland 4072, Australia; Jiangsu Key Laboratory of Crop Genomics and Molecular Breeding/Key Laboratory of Plant Functional Genomics of the Ministry of Education/Jiangsu Key Laboratory of Crop Genetics and Physiology, Agricultural College of Yangzhou University, Yangzhou 225009, China; Jiangsu Co-Innovation Center for Modern Production Technology of Grain Crops, Yangzhou University, Yangzhou 225009, China. Electronic address: b.gilbert@uq.edu.au.
Publikováno v:
Carbohydrate polymers [Carbohydr Polym] 2024 Dec 15; Vol. 346, pp. 122631. Date of Electronic Publication: 2024 Aug 17.
Autor:
Merberg D; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Moreland R; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Su Z; Takeda Pharmaceutical Company Limited, Preclinical and Translational Sciences, Cambridge, MA, USA., Li B; Takeda Pharmaceutical Company Limited, Preclinical and Translational Sciences, Cambridge, MA, USA., Crooker B; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Palmieri K; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Moore SW; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Melber A; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Boyanapalli R; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Carey G; Takeda Pharmaceutical Company Limited, Rare Disease Drug Discovery Unit, Cambridge, MA, USA., Makhija M; Takeda International - UK, London, England.
Publikováno v:
Annals of medicine [Ann Med] 2024 Dec; Vol. 56 (1), pp. 2402503. Date of Electronic Publication: 2024 Oct 24.
Autor:
Narayan A; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Taylor LJ; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, UK., Sperring S; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Shanks M; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Clouston P; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., MacLaren RE; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, UK., Cehajic-Kapetanovic J; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, UK.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 668-675. Date of Electronic Publication: 2024 Sep 19.