Zobrazeno 1 - 10
of 843
pro vyhledávání: '"alpha-Mannosidosis"'
Autor:
Guffon N; Reference Centre for Inherited Metabolic Diseases (CERLYMM), Hospices Civils of Lyon (HCL), Lyon, France. Electronic address: nathalie.guffon-fouilhoux@chu-lyon.fr., Burton BK; Northwestern University and Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Ficicioglu C; Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital, Prague, Czech Republic., Gil-Campos M; Reina Sofía University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, Spanish Network for Research of Excellence in Obesity (CIBEROBN), Córdoba, Spain., Lopez-Rodriguez MA; Hospital Universitario Ramón Y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain., Jayakar P; Nicklaus Children's Hospital, Miami, FL, USA., Lund AM; Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Rigshospitalet, and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Tal G; Metabolic Clinic and Pediatric Department 'B', Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Garcia-Ortiz JE; Division of Genetics, Centro de Investigación Biomédica de Occidente (CIBO) del Instituto Mexicano de Seguro Social (IMSS), Guadalajara, Mexico., Stepien KM; Adult Inherited Metabolic Diseases, Northern Care Alliance National Health Service (NHS) Foundation Trust, Salford Royal Organization, Salford, UK., Ellaway C; Sydney Children's Hospital Network, Sydney, Australia., Al-Hertani W; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Giugliani R; Federal University of Rio Grande do Sul (UFRGS), Hospital de Clinicas de Porto Alegre (HCPA), National Institute of Population Medical Genetics (INAGEMP), Diagnósticos da América S.A. (DASA) and Center for Comprehensive Care and Training in Rare Diseases (CASA DOS RAROS), Porto Alegre, Brazil., Cathey SS; Greenwood Genetic Center, Greenwood, SC, USA., Hennermann JB; Villa Metabolica, University Medical Center Mainz, Mainz, Germany., Lampe C; Center for Pediatric Neurology, Muscular Diseases and Social Pediatrics, Giessen University Hospital, Giessen, Germany., McNutt M; The University of Texas Southwestern Medical Center, Dallas, TX, USA., Lagler FB; Institute for Inherited Metabolic Diseases & Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria., Scarpa M; Regional Coordinating Center for Rare Diseases, University Hospital Udine, Italy., Sutton VR; Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA., Muschol N; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: muschol@uke.de.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108519. Date of Electronic Publication: 2024 Jun 23.
Autor:
Holla VV; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Gurram S; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Kamath SD; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Kamble N; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Yadav R; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Pal PK; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Aug; Vol. 11 Suppl 2, pp. S8-S10. Date of Electronic Publication: 2024 Jan 20.
Autor:
Santoro L; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy. Electronic address: dott.luciasantoro@gmail.com., Cefalo G; Clinical Department of Pediatrics, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy. Electronic address: graziella.cefalo@asst-santipaolocarlo.it., Canalini F; Chiesi Italia SPA, Parma, Italy. Electronic address: f.canalini@chiesi.com., Rossi S; Chiesi Italia SPA, Parma, Italy. Electronic address: silvia.rossi14576@gmail.com., Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, P.le S. Maria della Misericordia 15, Udine 33100, Italy. Electronic address: maurizio.scarpa@asufc.sanita.fvg.it.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108444. Date of Electronic Publication: 2024 Mar 14.
Autor:
Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Benech C; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Schutz S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Zanlonghi X; Centre de compétence maladie rare, Service d'Ophtalmologie, CHU Rennes, Rennes, France., Nadjar Y; Département de Neurologie, Centre de Référence des Maladies Lysosomales, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Le Maréchal C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Férec C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63532. Date of Electronic Publication: 2024 Jan 08.
Autor:
Köse E; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey. Electronic address: enginkose85@hotmail.com., Kasapkara ÇS; Ankara Yıldırım Beyazıt University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., İnci A; Gazi University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Sürücü Kara İ; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey., Kahraman AB; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Tümer L; Gazi University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Dursun A; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Eminoğlu FT; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104927. Date of Electronic Publication: 2024 Feb 19.
Autor:
Bertolini A; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Rigoldi M; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Bergamo, Italy., Cianflone A; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Mariani R; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Piperno A; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Canonico F; Department of Radiology, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Cefalo G; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Milan, Italy., Carubbi F; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE Hospital, AOU Modena, Modena, Italy., Simonati A; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine, Verona, Italy., Urban ML; Department of Experimental and Clinical Medicine, University of Florence, Firenze, Italy., Beccari T; Department of Pharmaceutical Sciences; University of Perugia, Perugia, Italy., Parini R; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2024 Jan 01; Vol. 33 (1), pp. 1-8. Date of Electronic Publication: 2023 Nov 23.
Autor:
Leong M; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Sathi B; Pediatric Hematology Oncology, Valley Children's Hospital, Madera, CA, USA., Davis A; Department of Pathology, Valley Children's Hospital, Madera, CA, USA., Hamid S; Department of Gastroenterology, Valley Children's Hospital, Madera, CA, USA., Wu S; Department of Pathology, Valley Children's Hospital, Madera, CA, USA., Woods J; Department of Pediatrics, Valley Children's Hospital, Madera, CA, USA.; Department of Pediatrics, Stanford University, Palo Alto, CA, USA., Kharbanda S; Department of Pediatric Bone Marrow Transplantation, UCSF Benioff Children's Hospitals, San Francisco, CA, USA., Li X; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Hou J; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Publikováno v:
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Nov 20; Vol. 36 (12), pp. 1186-1190. Date of Electronic Publication: 2023 Nov 20 (Print Publication: 2023).
Autor:
Abdul Ghani S; Dow University of Health Sciences, Karachi., Burney S; Dow University of Health Sciences, Karachi., Ul Hussain H; Dow University of Health Sciences, Karachi., Abdul Wahid M; Dow University of Health Sciences, Karachi., Mumtaz H; Maroof International Hospital. Public Health Scholar, Health Services Academy, Islamabad, Pakistan.
Publikováno v:
International journal of surgery (London, England) [Int J Surg] 2023 Sep 01; Vol. 109 (9), pp. 2882-2885. Date of Electronic Publication: 2023 Sep 01.
Autor:
Bullock G; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Johnson GS; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Pattridge SG; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Mhlanga-Mutangadura T; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Guo J; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Cook J; Specialists in Companion Animal Neurology, Clearwater, FL 33765, USA., Campbell RS; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Vite CH; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Katz ML; Neurodegenerative Diseases Research Laboratory, Department of Ophthalmology, School of Medicine, University of Missouri, Columbia, MO 65212, USA.
Publikováno v:
Genes [Genes (Basel)] 2023 Aug 31; Vol. 14 (9). Date of Electronic Publication: 2023 Aug 31.
Autor:
Santoro L; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy., Monachesi C; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy., Zampini L; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy., Padella L; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy., Galeazzi T; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy., Santori E; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy., Cordiali R; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy., Dardis A; Regional Coordinator Centre for Rare Diseases, Academic Hospital 'Santa Maria della Misericordia', Udine, Italy., Catassi C; Division of Pediatrics, Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi, Ancona, Italy.; The Division of Pediatric Gastroenterology and Nutrition and Center for Celiac Research, Mass General Hospital for Children, Boston, Massachusetts, USA., Boccieri E; Department of Pediatric Hematology and Oncology and Cell and Gene Therapy, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Galaverna F; Department of Pediatric Hematology and Oncology and Cell and Gene Therapy, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Locatelli F; Department of Pediatric Hematology and Oncology and Cell and Gene Therapy, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, Rome, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1948-1952. Date of Electronic Publication: 2023 Apr 12.