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Wyświetlanie 1-16 z 16
Tytuł :
Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.
Autorzy :
Magrinelli F; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Mulroy E; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Schneider SA; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Latorre A; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Di Lazzaro G; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Hennig A; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Grünewald S; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
De Vivo DC; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY.
Bhatia KP; From the Department of Clinical and Movement Neurosciences (F.M., E.M., A.L., G.D.L., K.P.B.), UCL Queen Square Institute of Neurology, University College London, UK; Department of Neurosciences, Biomedicine and Movement Sciences (F.M.), University of Verona, Italy; Department of Neurology (S.A.S., A.H.), Ludwig-Maximilians-Universität München, Germany; Department of Systems Medicine (G.D.L.), University of Roma Tor Vergata, Rome, Italy; Department of Metabolic Medicine (S.G.), UCL Great Ormond Street Hospital Institute of Child Health, NIHR Biomedical Research Center, London, UK; and Departments of Neurology and Pediatrics (D.C.D.V.), Columbia University Irving Medical Center, New York, NY. .
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Źródło :
Neurology [Neurology] 2020 Sep 15; Vol. 95 (11), pp. 500-501. Date of Electronic Publication: 2020 Aug 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Carbohydrate Metabolism, Inborn Errors/*physiopathology
Gait/*physiology
Monosaccharide Transport Proteins/*deficiency
Carbohydrate Metabolism, Inborn Errors/genetics ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Monosaccharide Transport Proteins/genetics
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Therapeutic strategies for glucose transporter 1 deficiency syndrome.
Autorzy :
Tang M; Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, 10032.; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032.
Park SH; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032.; Department of Neurology, Columbia University Medical Center, New York, New York, 10032.
De Vivo DC; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032.; Department of Neurology, Columbia University Medical Center, New York, New York, 10032.
Monani UR; Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, 10032.; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York, 10032.; Department of Neurology, Columbia University Medical Center, New York, New York, 10032.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Sep; Vol. 6 (9), pp. 1923-1932. Date of Electronic Publication: 2019 Aug 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Diet, Ketogenic*
Genetic Therapy*
Carbohydrate Metabolism, Inborn Errors/*therapy
Glucose Transporter Type 1/*genetics
Monosaccharide Transport Proteins/*deficiency
Triglycerides/*therapeutic use
Brain/metabolism ; Carbohydrate Metabolism, Inborn Errors/drug therapy ; Carbohydrate Metabolism, Inborn Errors/genetics ; Humans ; Monosaccharide Transport Proteins/genetics ; Mutation
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Paroxysmal eye-head movements in Glut1 deficiency syndrome.
Autorzy :
Pearson TS; From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York. .
Pons R; From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York. .
Engelstad K; From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York.
Kane SA; From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York.
Goldberg ME; From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York.
De Vivo DC; From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York.
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Źródło :
Neurology [Neurology] 2017 Apr 25; Vol. 88 (17), pp. 1666-1673. Date of Electronic Publication: 2017 Mar 24.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Eye Movements*
Head Movements*
Carbohydrate Metabolism, Inborn Errors/*physiopathology
Dyskinesias/*physiopathology
Monosaccharide Transport Proteins/*deficiency
Carbohydrate Metabolism, Inborn Errors/drug therapy ; Child ; Dyskinesias/drug therapy ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Seizures/drug therapy ; Seizures/physiopathology ; Video Recording
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.
Autorzy :
Tang M; Department of Pathology &Cell Biology, Columbia University Medical Center, New York, New York 10032, USA.; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York 10032, USA.
Gao G; Department of Microbiology and Physiological Systems, University of Massachusetts Medical School, Worcester, Massachusetts 010605, USA.; Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, Massachusetts 010605, USA.
Rueda CB; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York 10032, USA.; Colleen Giblin Laboratory, Columbia University Medical Center, New York, New York 10032, USA.; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
Yu H; Laboratory for Functional Optical Imaging, Departments of Biomedical Engineering and Radiology, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, New York 10027, USA.
Thibodeaux DN; Laboratory for Functional Optical Imaging, Departments of Biomedical Engineering and Radiology, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, New York 10027, USA.
Awano T; Department of Pathology &Cell Biology, Columbia University Medical Center, New York, New York 10032, USA.; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York 10032, USA.
Engelstad KM; Colleen Giblin Laboratory, Columbia University Medical Center, New York, New York 10032, USA.; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
Sanchez-Quintero MJ; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
Yang H; Colleen Giblin Laboratory, Columbia University Medical Center, New York, New York 10032, USA.; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
Li F; Colleen Giblin Laboratory, Columbia University Medical Center, New York, New York 10032, USA.; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
Li H; Department of Microbiology and Physiological Systems, University of Massachusetts Medical School, Worcester, Massachusetts 010605, USA.; Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, Massachusetts 010605, USA.
Su Q; Department of Microbiology and Physiological Systems, University of Massachusetts Medical School, Worcester, Massachusetts 010605, USA.; Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, Massachusetts 010605, USA.
Shetler KE; Colleen Giblin Laboratory, Columbia University Medical Center, New York, New York 10032, USA.; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
Jones L; Department of Radiology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Seo R; Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.
McConathy J; Division of Molecular Imaging and Therapeutics, University of Alabama, Birmingham, Alabama 35249, USA.
Hillman EM; Laboratory for Functional Optical Imaging, Departments of Biomedical Engineering and Radiology, Mortimer B. Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, New York 10027, USA.
Noebels JL; Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.
De Vivo DC; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York 10032, USA.; Colleen Giblin Laboratory, Columbia University Medical Center, New York, New York 10032, USA.; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
Monani UR; Department of Pathology &Cell Biology, Columbia University Medical Center, New York, New York 10032, USA.; Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York 10032, USA.; Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.
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Źródło :
Nature communications [Nat Commun] 2017 Jan 20; Vol. 8, pp. 14152. Date of Electronic Publication: 2017 Jan 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain/*blood supply
Carbohydrate Metabolism, Inborn Errors/*metabolism
Glucose Transporter Type 1/*metabolism
Microvessels/*metabolism
Monosaccharide Transport Proteins/*deficiency
Animals ; Blood-Brain Barrier/growth & development ; Blood-Brain Barrier/metabolism ; Brain/metabolism ; Brain/physiopathology ; Carbohydrate Metabolism, Inborn Errors/genetics ; Carbohydrate Metabolism, Inborn Errors/physiopathology ; Female ; Glucose/metabolism ; Glucose Transporter Type 1/genetics ; Humans ; Male ; Mice ; Microvessels/abnormalities ; Microvessels/growth & development ; Monosaccharide Transport Proteins/genetics ; Monosaccharide Transport Proteins/metabolism ; Neovascularization, Physiologic
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.
Autorzy :
Blumenschine M; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Montes J; Department of Neurology, Columbia University Medical Center, New York, NY, USA Department of Rehabilitation Medicine, Columbia University Medical Center, New York, NY, USA.
Rao AK; Department of Rehabilitation Medicine, Columbia University Medical Center, New York, NY, USA.
Engelstad K; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY, USA .
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Źródło :
Journal of child neurology [J Child Neurol] 2016 Nov; Vol. 31 (13), pp. 1483-1488. Date of Electronic Publication: 2016 Aug 10.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gait*/physiology
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Carbohydrate Metabolism, Inborn Errors/*physiopathology
Monosaccharide Transport Proteins/*deficiency
Adolescent ; Biomechanical Phenomena ; Exercise Test ; Fatigue/diagnosis ; Fatigue/physiopathology ; Humans ; Male ; Severity of Illness Index ; Surveys and Questionnaires ; Young Adult
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment.
Autorzy :
Akman CI; Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY; Division of Pediatric Neurology, Department of Neurology, Pediatric Epilepsy Center, Columbia University College of Physician and Surgeons, New York, NY.
Yu J; Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY.
Alter A; Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY; Division of Pediatric Neurology, Department of Neurology, Pediatric Epilepsy Center, Columbia University College of Physician and Surgeons, New York, NY.
Engelstad K; Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY.
De Vivo DC; Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY. Electronic address: .
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Źródło :
The Journal of pediatrics [J Pediatr] 2016 Apr; Vol. 171, pp. 220-6. Date of Electronic Publication: 2016 Jan 22.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Glucose Transporter Type 1/*deficiency
Age of Onset ; Anticonvulsants/therapeutic use ; Brain/growth & development ; Carbohydrate Metabolism, Inborn Errors/therapy ; Caregivers ; Child ; Child, Preschool ; Diet, Ketogenic ; Early Medical Intervention ; Epilepsy/diagnosis ; Eye Movements ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Medical Records ; Pediatrics/methods ; Retrospective Studies ; Seizures/diagnosis ; Seizures/drug therapy
Czasopismo naukowe
Tytuł :
Long-term clinical course of Glut1 deficiency syndrome.
Autorzy :
Alter AS; Department of Neurology, Columbia University, New York, NY, USA.
Engelstad K; Department of Neurology, Columbia University, New York, NY, USA.
Hinton VJ; Department of Neurology, Columbia University, New York, NY, USA Gertrude Sergievsky Center, Columbia University, New York, NY, USA.
Montes J; Department of Neurology, Columbia University, New York, NY, USA.
Pearson TS; Department of Neurology, Columbia University, New York, NY, USA.
Akman CI; Department of Neurology, Columbia University, New York, NY, USA.
De Vivo DC; Department of Neurology, Columbia University, New York, NY, USA .
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Źródło :
Journal of child neurology [J Child Neurol] 2015 Feb; Vol. 30 (2), pp. 160-9. Date of Electronic Publication: 2014 Apr 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*complications
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Epilepsy/*etiology
Monosaccharide Transport Proteins/*deficiency
Movement Disorders/*etiology
Adaptation, Psychological/physiology ; Adolescent ; Carbohydrate Metabolism, Inborn Errors/diet therapy ; Carbohydrate Metabolism, Inborn Errors/genetics ; Child ; Diet, Ketogenic/methods ; Female ; Gait ; Humans ; Male ; Monosaccharide Transport Proteins/genetics ; Neurologic Examination ; Neuropsychological Tests ; Surveys and Questionnaires ; Young Adult
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency.
Autorzy :
Akman CI; Department of Neurology, Division of Pediatric Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician & Surgeons, United States; Department of Neurology, Comprehensive Epilepsy Center, Columbia University College of Physician & Surgeons, United States. Electronic address: .
Provenzano F; Department of Radiology, Kreitchman PET Center, Columbia University College of Physician & Surgeons, United States.
Wang D; Department of Neurology, Division of Pediatric Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician & Surgeons, United States.
Engelstad K; Department of Neurology, Division of Pediatric Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician & Surgeons, United States.
Hinton V; Department of Neurology, Division of Pediatric Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician & Surgeons, United States.
Yu J; Department of Neurology, Division of Pediatric Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician & Surgeons, United States.
Tikofsky R; Department of Radiology, Kreitchman PET Center, Columbia University College of Physician & Surgeons, United States.
Ichese M; Department of Radiology, Kreitchman PET Center, Columbia University College of Physician & Surgeons, United States.
De Vivo DC; Department of Neurology, Division of Pediatric Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician & Surgeons, United States.
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Źródło :
Epilepsy research [Epilepsy Res] 2015 Feb; Vol. 110, pp. 206-15. Date of Electronic Publication: 2014 Dec 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain/*metabolism
Carbohydrate Metabolism, Inborn Errors/*metabolism
Epilepsy/*metabolism
Glucose/*metabolism
Monosaccharide Transport Proteins/*deficiency
Adolescent ; Adult ; Brain/diagnostic imaging ; Brain Mapping ; Carbohydrate Metabolism, Inborn Errors/diagnostic imaging ; Carbohydrate Metabolism, Inborn Errors/genetics ; Child ; Child, Preschool ; Cohort Studies ; Epilepsy/diagnostic imaging ; Epilepsy/genetics ; Fluorodeoxyglucose F18 ; Glucose Transporter Type 1/genetics ; Glucose Transporter Type 1/metabolism ; Humans ; Infant ; Middle Aged ; Monosaccharide Transport Proteins/genetics ; Monosaccharide Transport Proteins/metabolism ; Neural Pathways/diagnostic imaging ; Neural Pathways/metabolism ; Positron-Emission Tomography ; Radiopharmaceuticals ; Signal Processing, Computer-Assisted ; Young Adult
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation.
Autorzy :
Woo SB; Department of Pediatrics, Hallym University College of Medicine, Seoul, Republic of Korea.
Lee KH
Kang HC
Yang H
De Vivo DC
Kim SK
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Źródło :
Gene [Gene] 2012 Sep 15; Vol. 506 (2), pp. 380-2. Date of Electronic Publication: 2012 Jul 17.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*genetics
Glucose Transporter Type 1/*deficiency
Glucose Transporter Type 1/*genetics
Carbohydrate Metabolism, Inborn Errors/blood ; Carbohydrate Metabolism, Inborn Errors/diagnosis ; Erythrocytes/cytology ; Family Health ; Female ; Glucose/metabolism ; Humans ; Infant, Newborn ; Korea ; Male ; Mutation ; RNA Splicing ; Syndrome ; Time Factors
Czasopismo naukowe
Tytuł :
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.
Autorzy :
Wang D; Department of Neurology, Columbia University, New York, New York 10032, USA.
Yang H
Shi L
Ma L
Fujii T
Engelstad K
Pascual JM
De Vivo DC
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Źródło :
Pediatric research [Pediatr Res] 2008 Nov; Vol. 64 (5), pp. 538-43.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
3-O-Methylglucose/*metabolism
Carbohydrate Metabolism, Inborn Errors/*metabolism
Glucose Transporter Type 1/*metabolism
Adolescent ; Animals ; Carbohydrate Metabolism, Inborn Errors/blood ; Carbohydrate Metabolism, Inborn Errors/genetics ; Child ; Erythrocytes/metabolism ; Female ; Gene Transfer Techniques ; Genotype ; Glucose Transporter Type 1/deficiency ; Glucose Transporter Type 1/genetics ; Humans ; Kinetics ; Male ; Models, Molecular ; Phenotype ; Protein Conformation ; Structure-Activity Relationship ; Xenopus laevis
Czasopismo naukowe
Tytuł :
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Autorzy :
Wang D; Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, 710 West 168th Street, New York, NY 10032, USA.
Pascual JM
Yang H
Engelstad K
Jhung S
Sun RP
De Vivo DC
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Źródło :
Annals of neurology [Ann Neurol] 2005 Jan; Vol. 57 (1), pp. 111-8.
Typ publikacji :
Clinical Trial; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*drug therapy
Carbohydrate Metabolism, Inborn Errors/*genetics
Ketoses/*therapeutic use
Monosaccharide Transport Proteins/*deficiency
Mutation/*genetics
3-O-Methylglucose/blood ; Adolescent ; Blood Glucose/metabolism ; Brain/pathology ; Brain/physiopathology ; Carbohydrate Metabolism, Inborn Errors/metabolism ; Child ; Child, Preschool ; DNA Mutational Analysis/methods ; Diet Therapy/methods ; Electroencephalography/methods ; Exons ; Female ; Glucose/cerebrospinal fluid ; Glucose Transporter Type 1 ; Humans ; Infant ; Lactic Acid/cerebrospinal fluid ; Male ; Monosaccharide Transport Proteins/genetics ; Phenotype ; Polymorphism, Genetic
Czasopismo naukowe
Tytuł :
GLUT1 deficiency and other glucose transporter diseases.
Autorzy :
Pascual JM; Colleen Giblin Laboratories, Neurological Institute of New York, College of Physicians and Surgeons, Columbia University, New York City, NY, USA. />Wang D
Lecumberri B
Yang H
Mao X
Yang R
De Vivo DC
Pokaż więcej
Źródło :
European journal of endocrinology [Eur J Endocrinol] 2004 May; Vol. 150 (5), pp. 627-33.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Mutation*
Carbohydrate Metabolism, Inborn Errors/*genetics
Monosaccharide Transport Proteins/*deficiency
Monosaccharide Transport Proteins/*genetics
Animals ; Carbohydrate Metabolism, Inborn Errors/physiopathology ; Carbohydrate Metabolism, Inborn Errors/therapy ; Disease Models, Animal ; Glucose Transporter Type 1 ; Humans
Czasopismo naukowe
Tytuł :
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
Autorzy :
Wang D; Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, New York, USA.
Kranz-Eble P
De Vivo DC
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Źródło :
Human mutation [Hum Mutat] 2000 Sep; Vol. 16 (3), pp. 224-31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Mutation*
Carbohydrate Metabolism, Inborn Errors/*genetics
Monosaccharide Transport Proteins/*deficiency
Monosaccharide Transport Proteins/*genetics
Alternative Splicing/genetics ; Amino Acid Sequence/genetics ; Child ; Codon, Nonsense/genetics ; DNA Mutational Analysis ; Genetic Carrier Screening ; Glucose Transporter Type 1 ; Humans ; Membrane Proteins/genetics ; Molecular Sequence Data ; RNA Splice Sites/genetics ; Syndrome
Czasopismo naukowe
Tytuł :
Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome.
Autorzy :
Klepper J; The Colleen Giblin Laboratories for Pediatric Neurological Research, Department of Neurology, Columbia University, New York, New York, USA.
Garcia-Alvarez M
O'Driscoll KR
Parides MK
Wang D
Ho YY
De Vivo DC
Pokaż więcej
Źródło :
Journal of clinical laboratory analysis [J Clin Lab Anal] 1999; Vol. 13 (3), pp. 116-21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
3-O-Methylglucose/*blood
Carbohydrate Metabolism, Inborn Errors/*diagnosis
Erythrocytes/*metabolism
Monosaccharide Transport Proteins/*genetics
Adolescent ; Carbohydrate Metabolism, Inborn Errors/blood ; Carbohydrate Metabolism, Inborn Errors/genetics ; Child ; Child, Preschool ; Female ; Glucose Transporter Type 1 ; Humans ; Infant ; Ketosis/blood ; Male ; Monosaccharide Transport Proteins/blood ; Mutation ; ROC Curve ; Sensitivity and Specificity ; Syndrome
Czasopismo naukowe
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