Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Hübschmann OK"'
Autor:
Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Julià-Palacios NA, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Velázquez Fragua R, Gómez T, Alcoverro Fortuny O, García-Jimenez I, López-Laso E, Roche-Martínez A, Muchart-Lopez J, Garcia-Cazorla A
Publikováno v:
Neuroradiology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
PURPOSE: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e17f2d692f4c2c6b84fa5a6211324911
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21688
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21688
Autor:
Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I, International Working Group on Neurotransmitter Related Disorders
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Scientia
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Scientia
RM; Trastornos hereditarios de neurotransmisores; Monoaminas; Deficiencia de tetrahidrobiopterina RM; Trastorns dels neurotransmissors heretats; Monoamines; Deficiència de tetrahidrobiopterina MRI; Inherited neurotransmitter disorders; Monoamines; T
Autor:
Himmelreich N; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany., Bertoldi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Alfadhel M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alghamdi MA; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, SA, Saudi Arabia., Anikster Y; Metabolic Disease Unit, The Edmond and Lily Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Israel., Bao X; Department of Pediatrics, Peking University First Hospital, Beijing, China., Bashiri FA; Division of Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Zeev BB; Pediatric Neurology, Safra Pediatric Hospital, Sheba Medical Center, Sackler School of Medicine, Tel Aviv University, Ramat Gan, Israel., Bisello G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Ceylan AC; Ankara Yıldırım Beyazıt University, Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Chien YH; Department of Medical Genetics & Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Choy YS; Prince Court Medical Center, Kuala Lumpur, Malaysia., Elsea SH; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Flint L; AADC Research Trust, Surrey, UK., García-Cazorla À; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain., Gijavanekar C; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gümüş EY; Department of Pediatrics and Inherited Metabolic Diseases, Marmara University School of Medicine, Istanbul, Turkey., Hamad MH; Neurology Division, Pediatric Department, King Saud University Medical City, Riyadh, SA, Saudi Arabia., Hişmi B; Department of Pediatrics and Inherited Metabolic Diseases, Marmara University School of Medicine, Istanbul, Turkey., Honzik T; Dept. of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Hübschmann OK; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Hwu WL; Department of Medical Genetics & Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain., Jeltsch K; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Juliá-Palacios N; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain., Kasapkara ÇS; Department of Pediatric Metabolism, Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Ankara, Turkey., Kurian MA; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-Institute of Child Health & Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Kusmierska K; Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland., Liu N; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ngu LH; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Malaysia., Odom JD; Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ong WP; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Malaysia., Opladen T; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Oppeboen M; Children's Department, Division of Child Neurology and Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Pearl PL; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pérez B; Centro de Diagnostico de Enfermedades Moleculares, CIBERER, IdiPAZ, Universidad Autonoma de Madrid, Madrid, Spain., Pons R; First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece., Rygiel AM; Department of Medical Genetics, Laboratory of Hereditary Diseases, Institute of Mother and Child, Warsaw, Poland., Shien TE; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Spaull R; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-Institute of Child Health & Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland., Tabarki B; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Tangeraas T; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Thöny B; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland., Wassenberg T; UZ Brussel, Department of Pediatrics, Brussels, Belgium., Wen Y; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, SA, Saudi Arabia., Yakob Y; Molecular Diagnostics Unit, Specialised Diagnostics Centre, Institute for Medical Research, National Institute of Health, Ministry of Health, Malaysia., Yin JGC; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Zeman J; Dept. of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Blau N; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Jul; Vol. 139 (3), pp. 107624. Date of Electronic Publication: 2023 Jun 02.