Zobrazeno 1 - 10
of 23 551
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:
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:
Yu J; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Ling X; Grandomics Biosciences, Beijing, China., Chen L; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Fang Y; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Lin H; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Lou J; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Ren Y; Grandomics Biosciences, Beijing, China., Chen J; Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 267-276. Date of Electronic Publication: 2024 Apr 05.
Autor:
Yoon JK; AVROBIO, Inc., Cambridge, MA 02139, USA., Schindler JW; AVROBIO, Inc., Cambridge, MA 02139, USA., Loperfido M; AVROBIO, Inc., Cambridge, MA 02139, USA., Baricordi C; AVROBIO, Inc., Cambridge, MA 02139, USA., DeAndrade MP; AVROBIO, Inc., Cambridge, MA 02139, USA., Jacobs ME; AVROBIO, Inc., Cambridge, MA 02139, USA., Treleaven C; AVROBIO, Inc., Cambridge, MA 02139, USA., Plasschaert RN; AVROBIO, Inc., Cambridge, MA 02139, USA., Yan A; AVROBIO, Inc., Cambridge, MA 02139, USA., Barese CN; AVROBIO, Inc., Cambridge, MA 02139, USA., Dogan Y; AVROBIO, Inc., Cambridge, MA 02139, USA., Chen VP; AVROBIO, Inc., Cambridge, MA 02139, USA., Fiorini C; AVROBIO, Inc., Cambridge, MA 02139, USA., Hull F; AVROBIO, Inc., Cambridge, MA 02139, USA., Barbarossa L; AVROBIO, Inc., Cambridge, MA 02139, USA., Unnisa Z; AVROBIO, Inc., Cambridge, MA 02139, USA., Ivanov D; AVROBIO, Inc., Cambridge, MA 02139, USA., Kutner RH; AVROBIO, Inc., Cambridge, MA 02139, USA., Guda S; AVROBIO, Inc., Cambridge, MA 02139, USA., Oborski C; AVROBIO, Inc., Cambridge, MA 02139, USA., Maiwald T; AVROBIO, Inc., Cambridge, MA 02139, USA., Michaud V; Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, Quebec H3T 1E2, Canada., Rothe M; Institute of Experimental Hematology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625 Hannover, Germany., Schambach A; Institute of Experimental Hematology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625 Hannover, Germany; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Pfeifer R; AVROBIO, Inc., Cambridge, MA 02139, USA., Mason C; AVROBIO, Inc., Cambridge, MA 02139, USA; Advanced Centre for Biochemical Engineering, University College London, London WC1E 6AE, UK., Biasco L; AVROBIO, Inc., Cambridge, MA 02139, USA; Zayed Centre for Research, University College London, London WC1N 1DZ, UK., van Til NP; AVROBIO, Inc., Cambridge, MA 02139, USA; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, VU University, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1081 HV, Amsterdam, the Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, the Netherlands. Electronic address: n.p.vantil@amsterdamumc.nl.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Nov 06; Vol. 32 (11), pp. 3847-3864. Date of Electronic Publication: 2024 Sep 17.
Autor:
Rajasekaran V; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Kelgeri C; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Johansen L; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Vijay S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Sreekantam S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Raiman J; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Daly A; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Sharif K; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK., Kitchen S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Gupte G; Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK.
Publikováno v:
Pediatric transplantation [Pediatr Transplant] 2024 Nov; Vol. 28 (7), pp. e14839.
Autor:
Mori-Yoshimura M; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. Electronic address: yoshimur@ncnp.go.jp., Takizawa H; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Unuma A; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Yorimoto K; Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. Electronic address: yoooori@ncnp.go.jp., Katsuta W; Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Miyagi K; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Sato N; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Hara T; Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan., Takahashi Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
Publikováno v:
Brain & development [Brain Dev] 2024 Nov; Vol. 46 (10), pp. 320-325. Date of Electronic Publication: 2024 Aug 13.