Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Vanderver AL"'
Autor:
Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Teferedegn EY; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Muirhead KJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Muraresku C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sergio E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Arnold K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Wang K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Vanderver AL; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bhoj EJK; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 19, pp. e63817. Date of Electronic Publication: 2024 Jul 19.
Autor:
Ahmed F; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Pediatric Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Do N; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Pediatric Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Vanderver AL; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Treat JR; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Section of Pediatric Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2024 Jan-Feb; Vol. 41 (1), pp. 156-157. Date of Electronic Publication: 2023 Sep 28.
Autor:
Wong KN; From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT., Botto LD; From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT., He M; From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT., Baker PR 2nd; From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT., Vanderver AL; From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT., Bonkowsky JL; From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2023 Sep 26; Vol. 9 (6), pp. e200101. Date of Electronic Publication: 2023 Sep 26 (Print Publication: 2023).
Autor:
Gavazzi F; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.; Department of Molecular and Translational Medicine, University of Brescia, Italy., Cross ZM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States., Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States., McMann JM; Division of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States., Rand EB; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States., Ulrick N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States., Shults J; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Vanderver AL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Adang L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2021 Dec; Vol. 52 (6), pp. 441-447. Date of Electronic Publication: 2021 Jan 14.
Autor:
Hong X; Department of Chemistry, University of Washington, Seattle, Washington 98195, United States., Kumar AB; Department of Chemistry, University of Washington, Seattle, Washington 98195, United States., Daiker J; Department of Chemistry, University of Washington, Seattle, Washington 98195, United States., Yi F; Department of Chemistry, University of Washington, Seattle, Washington 98195, United States., Sadilek M; Department of Chemistry, University of Washington, Seattle, Washington 98195, United States., De Mattia F; San Raffaele Telethon Institute for Gene Therapy, IRCCS Ospedale, San Raffaele, Milan,20132, Italy., Fumagalli F; San Raffaele Telethon Institute for Gene Therapy, IRCCS Ospedale, San Raffaele, Milan,20132, Italy.; Pediatric Immunohematology, IRCCS Ospedale San Raffaele, Milan, 20132, Italy., Calbi V; San Raffaele Telethon Institute for Gene Therapy, IRCCS Ospedale, San Raffaele, Milan,20132, Italy.; Pediatric Immunohematology, IRCCS Ospedale San Raffaele, Milan, 20132, Italy., Damiano R; Newborn Screening, Clinical Chemistry, and Pharmacology Lab, Meyer Children's Hospital, Florence, 50139, Italy., Della Bona M; Newborn Screening, Clinical Chemistry, and Pharmacology Lab, Meyer Children's Hospital, Florence, 50139, Italy., la Marca G; Newborn Screening, Clinical Chemistry, and Pharmacology Lab, Meyer Children's Hospital, Florence, 50139, Italy.; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, 50121, Italy., Vanderver AL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States., Waldman AT; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States., Adang L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States., Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States., Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States., Suhr T; MLD Foundation, West Linn, Oregon 97068, United States., Kurtzberg J; Department of Pediatrics, Duke University, Durham, North Carolina 27705, United States., Beltran-Quintero ML; University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, United States., Escolar M; University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, United States., Aiuti A; San Raffaele Telethon Institute for Gene Therapy, IRCCS Ospedale, San Raffaele, Milan,20132, Italy., Finglas A; MSD Action Foundation, Dublin, Ireland., Olsen A; United MSD Foundation, Ocean Springs, Misssissippi 39564, United States., Gelb MH; Department of Chemistry, University of Washington, Seattle, Washington 98195, United States.; Department of Biochemistry, University of Washington, Seattle, Washington 98195, United States.
Publikováno v:
Analytical chemistry [Anal Chem] 2020 May 05; Vol. 92 (9), pp. 6341-6348. Date of Electronic Publication: 2020 Apr 16.
Autor:
Rice GI; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom., Park S; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts.; Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts., Gavazzi F; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Adang LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Ayuk LA; Paediatric Department, Dumfries and Galloway Royal Infirmary, Cargenbridge, United Kingdom., Van Eyck L; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France., Seabra L; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France., Barrea C; Department of Neuropaediatrics, CHU & University of Liège, Liege, Belgium., Battini R; Department Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; IRCCS Fondazione Stella Maris, Pisa, Italy., Belot A; Université de Lyon, INSERM U1111, CIRI, Lyon, France.; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, École Normale Supérieure de Lyon, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France., Berg S; Pediatric Immunology and Rheumatology, The Queen Silvia Children's Hospital, Goteborg, Sweden., Billette de Villemeur T; Neuropédiatrie, Centre de référence Neurogénétique, Hôpital Trousseau, Sorbonne Université, Paris, France., Bley AE; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Blumkin L; Pediatric Neurology Unit, Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Boespflug-Tanguy O; Génétique Médicale, Université Paris Diderot, Paris, France.; Service de Neuropédiatrie et des Maladies Métaboliques, Centre de Référence Maladies Rares 'Leucodystrophies', Hopital Robert Debré, Paris, France., Briggs TA; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Brimble E; Department of Neurology, Stanford University School of Medicine, Stanford, California., Dale RC; Faculty of Medicine and Health, Kids Neuroscience Centre, Brain and Mind Centre, Children's Hospital at Westmead, University of Sydney, Sydney, Australia., Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.; The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden., Debray FG; Metabolic Unit, Department of Medical Genetics, CHU & University of Liège, Gembloux, Belgium., De Giorgis V; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Denecke J; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Doummar D; GHUEP, département de neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, Paris, France., Drake Af Hagelsrum G; Pediatric Neurology, The Queen Silvia Children's Hospital, Goteborg, Sweden., Eleftheriou D; Paediatric Rheumatology, ARUK Centre for Adolescent Rheumatology, Institute of Child Health, University College London (UCL) Great Ormond Street Hospital, London, United Kingdom., Estienne M; U.O. Neuropsichiatria Infantile, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy., Fazzi E; Unit of Child Neurology and Psichiatry, ASST Spedali Civili of Brescia, Brescia, Italy.; Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy., Feillet F; Service de Médecine Infantile, Centre de Référence des maladies métaboliques de Nancy, CHU Brabois Enfants, Unité INSERM NGERE U1256, Nancy, France., Galli J; Unit of Child Neurology and Psichiatry, ASST Spedali Civili of Brescia, Brescia, Italy.; Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy., Hartog N; Department of Allergy/Immunology, Spectrum Health Helen Devos Children's Hospital, Michigan State University College of Human Medicine, East Lansing, Michigan., Harvengt J; Department of Medical Genetics, CHU & University of Liège, Gembloux, Belgium., Heron B; Service de Neuropédiatrie, Centre Référence des Maladies Lysosomales, Hôpital Trousseau, Paris, France., Heron D; UF Génétique Médicale et Centre de Référence 'Déficiences Intellectuelles', Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Kelly DA; The Liver Unit, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Lev D; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Metabolic Neurogenetic Service, Wolfson Medical Center, The Rina Mor Institute of Medical Genetics, Holon, Israel., Levrat V; Service de pédiatrie, Centre Hospitalier Annecy Genevois, Pringy, France., Livingston JH; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom., Marti I; Pediatric Neurology, Hospital Universitario Donostia, Universidad del País Vasco UPV-EHU, San Sebastian, Spain., Mignot C; Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare, GH Pitié-Sapêtrière, Paris, France., Mochel F; Institut du Cerveau et de la Moelle épinière, INSERM U 1127, Sorbonne Universités, Paris, France., Nougues MC; Service de Neuropédiatrie, GHUEP, Hôpital Armand Trousseau, APHP, Paris, France., Oppermann I; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Pérez-Dueñas B; Pediatric Neurology Research Group, Hospital Vall d'Hebron-Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain., Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Rodero MP; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France., Rodriguez D; GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, CRMR maladies neurogénétiques, Sorbonne Université, Paris, France.; Service de Neuropédiatrie, Hôpital Trousseau, Groupe Hospitalier HUEP, Inserm U1141, Paris, France., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sharpe C; Paediatric Neurology, Starship Children's Hospital, Auckland, New Zealand., Tonduti D; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy., Vadlamani G; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom., Van Haren K; Department of Neurology, Stanford University School of Medicine, Stanford, California., Tomas Vila M; Neuropediatría, Hospital Universitari i Pôlitecnic La Fe, Valencia, Spain., Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom., Wassmer E; Department of Paediatric Neurology, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom., Wiedemann A; Service de Médecine Infantile, Centre de Référence des maladies métaboliques de Nancy, CHU Brabois Enfants, Unité INSERM NGERE U1256, Nancy, France., Wilson CJ; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Zerem A; Pediatric Neurology Unit, Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom.; School of Medicine, University of Glasgow, Glasgow, United Kingdom., Orcesi S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Vanderver AL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hur S; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts.; Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts., Crow YJ; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.; Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France.; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Publikováno v:
Human mutation [Hum Mutat] 2020 Apr; Vol. 41 (4), pp. 837-849. Date of Electronic Publication: 2020 Jan 14.
Autor:
Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Green LMC; Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds, United Kingdom., Bertini E; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy., Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy., Aiello C; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy., Smith D; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Salsano E; Unit of Rare Neurodegenerative and Neurometabolic Disease, Fondazione IRCCS Istituto Neurologica 'C.Besta', Milano, Italy., Beerepoot S; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands., Hertecant J; Paediatric Genetic and Metabolic Service, Tawam Hospital, Al Ain, United Arab Emirates., von Spiczak S; DRK-Northern German Epilepsy Centre for Children and Adolescents, Schwentinental-Raisdorf, Germany.; Department of Pediatrics II, University Medical Center Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany., Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds, United Kingdom.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Emrick L; Division of Neurology and Developmental Neurosciences, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Fraser J; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Health System, Washington, District of Columbia., Russell L; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada., Bernard G; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; MyeliNeuroGene Laboratory, Research Institutes of the McGill University Health Centre, Montreal, Canada., Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Koenig MK; Department of Paediatrics, University of Texas McGovern Medical School, Houston, Texas., Moroni I; Department of Paediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Cappuccio G; Department of Translational Medicine, Federico II University, Pozzuoli, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Pozzuoli, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Rhee J; Department of Neurology, Children's National Health Systems, Washington, District of Columbia., Mendelsohn BA; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California., Helbig I; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Pediatric Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Helbig K; Division of Neurology, Roberts Center for Pediatric Research, Philadelphia, Pennsylvania., Muhle H; Department of Pediatrics II, University Medical Center Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany., Ismayl O; Department of Child Neurology, Sheikh Khalifah Medical City, Abu Dhabi, United Arab Emirates., Vanderver AL; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., van der Knaap MS; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.; Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., Wolf NI; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Jan; Vol. 7 (1), pp. 83-93. Date of Electronic Publication: 2019 Dec 08.
Autor:
Adang LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: adangl@email.chop.edu., Frank DB; Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gilani A; Department of Pathology, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ulrick N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Collins A; Division of Pediatric Neurology, Colorado Children's Hospital, Aurora, CO, USA., Cross Z; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Galambos C; Department of Pathology, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Helman G; Murdoch Children's Research Institute, Parkville, Melbourne, Australia., Kanaan U; Division of Pediatric Cardiology, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, USA., Keller S; Division of Pediatric Neurology, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, USA., Simon D; Division of pediatric pulmonology, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA., Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hanna BD; Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vanderver AL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2018 Dec; Vol. 125 (4), pp. 351-358. Date of Electronic Publication: 2018 Sep 07.
Autor:
Singh RK; Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA., Leshner RT, Kadom N, Vanderver AL
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2009 May; Vol. 40 (5), pp. 380-2.