International Consensus Guidance for Management of Myasthenia Gravis 2020 Update

Autor: Narayanaswami, P, Sanders, DB, Wolfe, G, Benatar, M, Cea, G, Evoli, A, Gilhus, NE, Illa, I, Kuntz, NL, Massey, J, Melms, A, Murai, H, Nicolle, M, Palace, J, Richman, D, Verschuuren, J

Publikováno v: NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)

Objective To update the 2016 formal consensus-based guidance for the management of myasthenia gravis (MG) based on the latest evidence in the literature. Methods In October 2013, the Myasthenia Gravis Foundation of America appointed a Task Force to d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::fdf77c1797418c21c23fe485d10af30e
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5791

Contrasting effects of IFNbeta and IVIG in children with central and peripheral demyelination.

Autor: Pirko I, Kuntz NL, Patterson M, Keegan BM, Weinshenker BG, Rodriguez M, Pirko, I, Kuntz, N L, Patterson, M, Keegan, B M, Weinshenker, B G, Rodriguez, M

Publikováno v: Neurology; 2003 May 27, Vol. 60 Issue 10, p1697-1699, 3p

Genersatztherapie (Gene Replacement Therapy, GRT) mit AVXS-101 bei spinaler Muskelatrophie Typ I (SMA1): Pivotstudie (STR1VE) – Aktualisierung

Autor: Day, JW, Chiriboga, CA, Crawford, TO, Darras, BT, Finkel, RS, Connolly, AM, Iannaccone, ST, Kuntz, NL, Pena, LDM, Schultz, M, Shieh, PB, Smith, EC, Feltner, DE, Ogrinc, F, Macek, TA, Kernbauer, E, Muehring, LM, L'Italien, J, Sproule, DM, Nagendran, S, Kaspar, BK, Mendell, JR

Publikováno v: Nervenheilkunde; May 2019, Vol. 38 Issue: 5

Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.

Autor: Schroth M; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Deans J; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Arya K; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Castro D; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., De Vivo DC; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Gibbons MA; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Ionita C; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Kuntz NL; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Lakhotia A; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Neil Knierbein E; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Scoto M; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Sejersen T; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Servais L; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Tian C; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Waldrop MA; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain., Vázquez-Costa JF; Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.

Publikováno v: Neurology. Clinical practice [Neurol Clin Pract] 2024 Aug; Vol. 14 (4), pp. e200310. Date of Electronic Publication: 2024 May 24.

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.

Autor: Tranel ES; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., McGowan B; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Drackley A; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Epstein LG; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Rao VK; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Kuntz NL; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America., Schwaede AN; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Jan 15; Vol. 38, pp. 101051. Date of Electronic Publication: 2024 Jan 15 (Print Publication: 2024).