Zobrazeno 1 - 10
of 555
pro vyhledávání: '"glycogen storage disease type IV"'
Autor:
Crane HM; Master of Science in Genetic Counseling Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Asher S; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA., Conway L; Master of Science in Genetic Counseling Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Drivas TG; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA., Kallish S; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63574. Date of Electronic Publication: 2024 Mar 04.
Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Autor:
Koch RL; Division of Medical Genetics, Department of Pediatrics, and., Kiely BT; Division of Medical Genetics, Department of Pediatrics, and., Choi SJ; Division of Medical Genetics, Department of Pediatrics, and., Jeck WR; Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA., Flores LS; Division of Medical Genetics, Department of Pediatrics, and., Sood V; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India., Alam S; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India., Porta G; Hepatology and Liver Transplant Unit, Menino Jesus Hospital, São Paulo, Brazil., LaVecchio K; Department of Pathology, The Queen's Medical Center, Honolulu, Hawaii, USA., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, and.
Publikováno v:
JCI insight [JCI Insight] 2024 May 14; Vol. 9 (12). Date of Electronic Publication: 2024 May 14.
Autor:
Lefèvre CR; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.; Department of Biochemistry and Toxicology, University Hospital, Rennes, France., Collardeau-Frachon S; Department of Pathology, Hospices Civils de Lyon and Soffoet (Société Française de Fœtopathologie), Bron, France., Streichenberger N; Department of Pathology, Hospices Civils de Lyon - Université Claude Bernard Lyon1 - Institut NeuroMyogène CNRS UMR 5261 - INSERM U1315, France., Berenguer-Martin S; Department of Pathology, University Hospital, Bordeaux, France., Clémenson A; Department of Pathology, University Hospital, Saint-Etienne, France., Massardier J; Multidisciplinary Center for Prenatal Diagnosis, Department of Obstetrics and Gynecology, Hospices Civils de Lyon, Femme Mere Enfant University Hospital, Bron, France., Prieur F; Department of Clinical, Chromosomal and Molecular Genetics, University Hospital, Saint-Etienne, France., Laurichesse H; Department of Gynecology, University Hospital, Clermont-Ferrand, France., Laffargue F; Department of Genetics, University Hospital, Clermont-Ferrand, France., Acquaviva-Bourdain C; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France., Froissart R; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France., Pettazzoni M; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 255-269. Date of Electronic Publication: 2023 Nov 27.
Autor:
Mitra S; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA. sharmistha.mitra@utsouthwestern.edu., Chen B; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Shelton JM; Department of Internal Medicine, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9148, USA., Nitschke S; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Wu J; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Covington L; Department of Internal Medicine, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9148, USA., Dear M; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Lynn T; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Verma M; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Nitschke F; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA., Fuseya Y; Department of Molecular and Cellular Physiology, Kyoto University School of Medicine, Kyoto, 606-8501, Japan., Iwai K; Department of Molecular and Cellular Physiology, Kyoto University School of Medicine, Kyoto, 606-8501, Japan., Evers BM; Departments of Pathology and Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9073, USA., Minassian BA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA. berge.minassian@utsouthwestern.edu.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2024 Feb 27; Vol. 147 (1), pp. 46. Date of Electronic Publication: 2024 Feb 27.
Autor:
Wang QY; Department of Pathology, Chidren's Hospital of Shanghai, Chidren's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200062, China., Wang JS; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China., Chen L; Department of Pathology, Children's Hospital of Fudan University, Shanghai 201102, China.
Publikováno v:
Zhonghua bing li xue za zhi = Chinese journal of pathology [Zhonghua Bing Li Xue Za Zhi] 2023 Dec 08; Vol. 52 (12), pp. 1255-1260.
Autor:
Oliwa A; Undergraduate Medical School, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Electronic address: agata.oliwa@newcastle.ac.uk., Langlands G; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Sarkozy A; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Munot P; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Stewart W; Department of Neuropathology, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Phadke R; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, WC1N 3BG, UK., Topf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK., Duncan R; Department of Orthopaedics, Royal Hospital for Sick Children, Glasgow, G51 4TF, UK., Wigley R; Department of Chemical Pathology, Great Ormond Street Hospital Trust, London, WC1N 3JH, UK., Petty R; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Longman C; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK., Farrugia ME; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Sep; Vol. 33 (9), pp. 98-105. Date of Electronic Publication: 2023 Jul 23.
Autor:
Koch RL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: rebecca.koch@duke.edu., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kiely BT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Asai A; Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH, USA; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Smith AL; Division of Urology, Department of Surgery, University of Pennsylvania Health System, Philadelphia, PA, USA., Bali DS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Landstrom AP; Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA; Department of Cell Biology, Duke University School of Medicine, Durham, NC, USA., Akman HO; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Burrow TA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Orthmann-Murphy JL; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA., Goldman DS; Adult Polyglucosan Body Disease Research Foundation, Brooklyn, NY, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., El-Gharbawy AH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Austin SL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Case LE; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Doctor of Physical Therapy Division, Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA., Schiffmann R; Texas Neurology Group, Dallas, TX, USA., Hirano M; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Mar; Vol. 138 (3), pp. 107525. Date of Electronic Publication: 2023 Jan 25.
Autor:
Nitschke S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Sullivan MA; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.; Glycation and Diabetes Complications, Mater Research Institute-The University of Queensland, Translational Research Institute, Brisbane, QLD, 4102, Australia., Mitra S; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Marchioni CR; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Lee JPY; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Smith BH; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Ahonen S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Wu J; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Chown EE; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Wang P; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Petković S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Zhao X; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., DiGiovanni LF; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Perri AM; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Israelian L; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada., Grossman TR; Department of Antisense Drug Discovery, Ionis Pharmaceuticals, Carlsbad, California, USA., Kordasiewicz H; Department of Antisense Drug Discovery, Ionis Pharmaceuticals, Carlsbad, California, USA., Vilaplana F; Division of Glycoscience, Department of Chemistry, KTH Royal Institute of Technology, AlbaNova University Centre, Stockholm 10691, Sweden., Iwai K; Department of Molecular and Cellular Physiology, Kyoto University School of Medicine, Kyoto 606-8501, Japan., Nitschke F; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.; Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Minassian BA; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Jul 29; Vol. 145 (7), pp. 2361-2377.
Autor:
Malinska D; Nencki Institute of Experimental Biology, Pasteur Street 3, 02-093, Warsaw, Poland. Electronic address: d.malinska@nencki.edu.pl., Testoni G; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology (BIST), Barcelona, 08028, Spain., Bejtka M; Nencki Institute of Experimental Biology, Pasteur Street 3, 02-093, Warsaw, Poland., Duran J; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology (BIST), Barcelona, 08028, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, 28029, Spain., Guinovart JJ; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology (BIST), Barcelona, 08028, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, 28029, Spain; Department of Biochemistry and Molecular Biomedicine, University of Barcelona, Barcelona, 08028, Spain., Duszynski J; Nencki Institute of Experimental Biology, Pasteur Street 3, 02-093, Warsaw, Poland.
Publikováno v:
Biochimie [Biochimie] 2021 Jul; Vol. 186, pp. 28-32. Date of Electronic Publication: 2021 Apr 20.
Autor:
Derks TGJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Peeks F; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., de Boer F; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Fokkert-Wilts M; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., van der Doef HPJ; Department of Pediatric Gastroenterology Hepatology and Nutrition, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., van den Heuvel MC; Department of Pathology & Medical Biology, Pathology Section, University of Groningen, University Medical Center Groningen, Hanzeplein, Groningen, Netherlands., Szymańska E; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Childrens' Memorial Health Institute, Warsaw, Poland., Rokicki D; Department of Pediatrics, Nutrition and Metabolic Disorders, The Childrens' Memorial Health Institute, Warsaw, Poland., Ryan PT; Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut, USA., Weinstein DA; Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Department of Pediatrics, University of Connecticut Health Center, Farmington, Connecticut, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 693-704. Date of Electronic Publication: 2020 Dec 21.