Zobrazeno 1 - 10
of 68 657
pro vyhledávání: '"NEONATAL SCREENING"'
Autor:
Freppel M; Lille University Hospital (CHU Lille), Lille, France., Mention K; Regional Neonatal Screening Center (CRDN Hauts-de-France), Lille University Hospital (CHU Lille), Lille, France., Renom G; Perinatal Screening Laboratory, Center for Biology and Pathology, Lille University Hospital (CHU Lille), Lille, France., Lambilliotte A; Lille University Hospital (CHU Lille), Lille, France., Barbati M; Lille University Hospital (CHU Lille), Lille, France.
Publikováno v:
Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Oct; Vol. 71 (10), pp. e31174. Date of Electronic Publication: 2024 Jul 08.
Autor:
Thimmesch M; Unité de Pneumologie pédiatrique, Centre de Mucoviscidose Liégeois, CHC MontLégia, Liège, Belgique., Boemer F; Laboratoire de Biochimie Génétique, Service de Génétique Humaine, CHU Liège, Belgique., Luis G; Laboratoire de Biochimie Génétique, Service de Génétique Humaine, CHU Liège, Belgique., Libioulle C; Laboratoire de Biologie Moléculaire Constitutionnelle, Service de Génétique Humaine, CHU de Liège, Belgique., Dideberg V; Laboratoire de Biologie Moléculaire Constitutionnelle, Service de Génétique Humaine, CHU de Liège, Belgique., Boboli H; Unité de Pneumologie pédiatrique, Centre de Mucoviscidose Liégeois, CHU de Liège, Belgique.
Publikováno v:
Revue medicale de Liege [Rev Med Liege] 2024 Oct; Vol. 79 (10), pp. 664-669.
Autor:
Testa ER; Blood Transfusion Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy., Robazza M; Pediatric Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy., Barbieri F; Pediatric Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy., Travan L; Neonatology and Intensive Care, IRCCS Burlo Garofalo, Trieste, Italy., Miani MP; Pediatric Unit, San Daniele Hospital, San Daniele, Italy., Miorin E; Pediatric Unit, Latisana-Palmanova Hospital, Latisana and Palmanova, Italy., Toller I; Pediatric Unit, Tolmezzo Hospital, Tolmezzo, Italy., Dragovic D; Pediatric Unit, Monfalcone Hospital, Monfalcone, Italy., Moretti V; Pediatric Unit, San Vito al Tagliamento Hospital, San Vito al Tagliamento, Italy., Facchin S; Pediatric Department, San Giorgio Polyclinic, Pordenone, Italy., Valeri P; Blood Transfusion Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy., Geremia L; Blood Transfusion Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy., Brunetta V; Blood Transfusion Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy., Dall'Amico R; Pediatric Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy., Bontadini A; Blood Transfusion Unit, 'Santa Maria degli Angeli' Hospital, Pordenone, Italy.
Publikováno v:
Blood transfusion = Trasfusione del sangue [Blood Transfus] 2024 Nov; Vol. 22 (6), pp. 529-536. Date of Electronic Publication: 2023 Nov 30.
Autor:
Becker MM; Hospital de Clínicas de Porto Alegre, Unidade de Neurologia Pediátrica, Departamento de Pediatria, Porto Alegre RS, Brazil., Nardes F; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Departamento de Pediatria, Rio de Janeiro RJ, Brazil., Dangouloff T; Université de Liège, Centre Hospitalier Universitaire de Liège, Centre de Référence des Maladies Neuromusculaires, Service de Pédiatrie, Liège, Belgium., Servais L; University of Oxford, MDUK Neuromuscular Centre, Oxford, United Kingdom., Araujo APQC; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Departamento de Pediatria, Rio de Janeiro RJ, Brazil., Gurgel-Giannetti J; Universidade Federal de Minas Gerais, Faculdade de Medicina, Departamento de Pediatria, Belo Horizonte MG, Brazil.
Publikováno v:
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2024 Oct; Vol. 82 (10), pp. 1-9. Date of Electronic Publication: 2024 Oct 13.
Feasibility, performances and predictive value of congenital CMV neonatal screening on saliva swabs.
Autor:
Portet Sulla V; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France; INSERM U1184, CEA, Center for Immunology of Viral, Auto-immune, Hematological and Bacterial diseases (IMVA-HB/IDMIT), Paris Saclay University, Fontenay-aux-Roses, France. Electronic address: vincent.portetsulla@aphp.fr., Kabore B; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France., Rafek R; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France., Chaghouri A; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France., Decombe G; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France., Lubrano Di Ciccone J; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France., Mouna L; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France., Letamendia-Richard E; Department of Neonatal Medicine, Antoine Béclère Hospital, DMU2 Santé des Femmes et des Nouveau-nés, Paris Saclay University Hospital, APHP, Clamart, France., Vauloup-Fellous C; Division of Virology, WHO Rubella National Reference Laboratory, Department of Biology Genetics, Paul Brousse Hospital, Paris Saclay University Hospital, APHP, Villejuif, France; INSERM U1184, CEA, Center for Immunology of Viral, Auto-immune, Hematological and Bacterial diseases (IMVA-HB/IDMIT), Paris Saclay University, Fontenay-aux-Roses, France.
Publikováno v:
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology [J Clin Virol] 2024 Oct; Vol. 174, pp. 105713. Date of Electronic Publication: 2024 Jul 08.
Autor:
Mikos B; 1 Magyarországi Református Egyház Bethesda Gyermekkórháza Budapest, Bethesda u. 3., 1146 Magyarország., Molnár MJ; 2 Semmelweis Egyetem, Általános Orvostudományi Kar, Genomikai Medicina és Ritka Betegségek Intézete Budapest, Gyulai Pál u. 2., 1085 Magyarország., Szatmári I; 3 Semmelweis Egyetem, Általános Orvostudományi Kar, Gyermekgyógyászati Klinika, Anyagcsere Szűrő és Diagnosztikai Központ Budapest Magyarország., Monostori P; 4 Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Klinikai Központ, Gyermekgyógyászati Klinika, Anyagcsere-betegségek Szűrővizsgálati Laboratóriuma Szeged Magyarország., Bereczki C; 5 Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Klinikai Központ, Gyermekgyógyászati Klinika és Gyermekegészségügyi Központ Szeged Magyarország., Szabó AJ; 6 Semmelweis Egyetem, Általános Orvostudományi Kar, Gyermekgyógyászati Klinika Budapest Magyarország., Szabó L; 6 Semmelweis Egyetem, Általános Orvostudományi Kar, Gyermekgyógyászati Klinika Budapest Magyarország., Csősz K; 7 Országos Kórházi Főigazgatóság Budapest Magyarország., Muzsik B; 7 Országos Kórházi Főigazgatóság Budapest Magyarország., Velkey GJ; 1 Magyarországi Református Egyház Bethesda Gyermekkórháza Budapest, Bethesda u. 3., 1146 Magyarország.
Publikováno v:
Orvosi hetilap [Orv Hetil] 2024 Jul 21; Vol. 165 (29), pp. 1122-1129. Date of Electronic Publication: 2024 Jul 21 (Print Publication: 2024).
Autor:
Akhkiamova M; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Polyakov A; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Marakhonov A; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Voronin S; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Saifullina E; Bashkir State Medical University, Lenin Str., 3, 450008 Ufa, Russia., Vafina Z; Republic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, Orenburgskiy Tract Str., 138, 420064 Kazan, Russia., Michalchuk K; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Braslavskaya S; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Chukhrova A; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Ryadninskaya N; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Kutsev S; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Shchagina O; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Publikováno v:
Genes [Genes (Basel)] 2024 Jul 21; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 21.
Autor:
Pane M; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Stanca G; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Ticci C; Metabolic and Muscular Unit, Meyer Children's Hospital, Viale Gaetano Pieraccini, 24, 50139, Florence, Italy., Cutrona C; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., De Sanctis R; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Pirinu M; Rehabilitation Unit, Meyer Children's Hospital, Viale Gaetano Pieraccini, 24, 50139, Florence, Italy., Coratti G; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Palermo C; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Berti B; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Leone D; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Sacchini M; Metabolic and Muscular Unit, Meyer Children's Hospital, Viale Gaetano Pieraccini, 24, 50139, Florence, Italy., Cerboneschi M; Rehabilitation Unit, Meyer Children's Hospital, Viale Gaetano Pieraccini, 24, 50139, Florence, Italy., Fanelli L; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Norcia G; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Forcina N; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Capasso A; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Cicala G; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Antonaci L; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Ricci M; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Pera MC; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Bravetti C; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy., Donati MA; Metabolic and Muscular Unit, Meyer Children's Hospital, Viale Gaetano Pieraccini, 24, 50139, Florence, Italy., Procopio E; Metabolic and Muscular Unit, Meyer Children's Hospital, Viale Gaetano Pieraccini, 24, 50139, Florence, Italy., Abiusi E; Department of Life Sciences and Public Health, Section of Genomic Medicine, Fondazione Policlinico 'A. Gemelli' IRCCS - Università Cattolica del Sacro Cuore, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Vaisfeld A; Department of Life Sciences and Public Health, Section of Genomic Medicine, Fondazione Policlinico 'A. Gemelli' IRCCS - Università Cattolica del Sacro Cuore, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Onesimo R; Department of Pediatrics, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Tiziano FD; Department of Life Sciences and Public Health, Section of Genomic Medicine, Fondazione Policlinico 'A. Gemelli' IRCCS - Università Cattolica del Sacro Cuore, Largo Agostino Gemelli, 8, 00168, Rome, Italy., Mercuri E; Centro Pediatrico Nemo and Pediatric Neurology Unit, Fondazione Policlinico 'A. Gemelli' IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy. eugeniomaria.mercuri@unicatt.it.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168, Rome, Italy. eugeniomaria.mercuri@unicatt.it.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Jul; Vol. 183 (7), pp. 2995-2999. Date of Electronic Publication: 2024 Apr 18.
Autor:
Michele Michelin Becker, Flávia Nardes, Tamara Dangouloff, Laurent Servais, Alexandra Prufer de Queiroz Campos Araujo, Juliana Gurgel-Giannetti
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 82, Iss 10, Pp 001-009 (2024)
Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many
Externí odkaz:
https://doaj.org/article/579c5df870ed412bacbd30390a2a1a21
Autor:
Posern C; Department of Pediatrics, University Medical Center Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. Electronic address: c.posern@uke.de., Dreyer B; Department of Pediatrics, University Medical Center Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. Electronic address: be.dreyer@uke.de., Maier SL; Department of Pediatrics, University Medical Center Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. Electronic address: sarah.lena.maier@gmail.com., Eichler F; Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA. Electronic address: feichler@mgb.org., Gelb MH; Department of Chemistry, University of Washington, 109 Bagley Hall, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu., Santer R; Department of Pediatrics, University Medical Center Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. Electronic address: r.santer@uke.de., Bley A; Department of Pediatrics, University Medical Center Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. Electronic address: a.bley@uke.de., Murko S; Department of Pediatrics, University Medical Center Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. Electronic address: s.murko@uke.de.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108489. Date of Electronic Publication: 2024 May 03.