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1Academic Journal
المؤلفون: Ryland, H., Gomez Alemany, T., Azvee, Z., Baessler, F., Casanova Dias, M., Kanellopoulos, A., Pinto da Costa, M., Sonmez, E.
المصدر: European Psychiatry ; volume 41, issue S1, page 914-915 ; ISSN 0924-9338 1778-3585
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المؤلفون: 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
المساهمون: [Kuseyri Hübschmann O] Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. [Mohr A] Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany. [Friedman J] UCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California. [Manti F] Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza, University of Rome, Rome, Italy. [Horvath G] University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada. [Cortès-Saladelafont E] Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain. Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol and Faculty of Medicine,Universitat Autònoma de Barcelona, Barcelona, Spain. [Alcoverro-Fortuny O, Gómez-Alemany T] Hospital General de Granollers, Granollers, Spain, Hospital General de Granollers
المصدر: 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
Scientiaمصطلحات موضوعية: Male, Pathology, Movement disorders, Neurotransmissors, diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas neurológicas::neuroimágenes [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], monoamines, Child, Genetics (clinical), 0303 health sciences, Brain Mapping, 030305 genetics & heredity, Inherited neurotransmitter disorders, monoamines, MRI, tetrahydrobiopterin deficiency, inherited neurotransmitter disorders, Brain, watershed injury, Middle Aged, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Encephalopathy, Diagnosis::Diagnostic Techniques and Procedures::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Neurological::Neuroimaging [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Grey matter, 03 medical and health sciences, Young Adult, Atrophy, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo de los aminoácidos::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::fenilcetonurias [ENFERMEDADES], Neuroimaging, Genetics, medicine, Humans, Tetrahydrobiopterin deficiency, Amino Acid Metabolism, Inborn Errors, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic [DISEASES], 030304 developmental biology, Retrospective Studies, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas [ENFERMEDADES], Inherited neurotransmitter disorders, Sistema nerviós - Malalties, Tyrosine hydroxylase, business.industry, Ressonància magnètica, Infant, medicine.disease, Monoamine neurotransmitter, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Phenylketonurias [DISEASES], business
وصف الملف: application/pdf
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4Conference
المؤلفون: Gomez Alemany, T, Hansen, A S, Moscoso, A
المصدر: Gomez Alemany , T , Hansen , A S & Moscoso , A 2019 , ' Worldwide overlook on the differences in child and adolescent psychiatry training program. Descriptive cross-sectional study based on early career pscyhiatrists' point of view ' , European Psychiatry , vol. 56 , no. Suppl. , E-PP0146 , pp. S36 . https://doi.org/10.1016/j.eurpsy.2019.01.003
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5Academic Journal
المؤلفون: Gómez Alemany, T., Soler Vidal, J., Targa, I., Garcia Alarcon, B., Santoro, A., Alcoverro, O., Sendra Lopez, J.
المصدر: European Psychiatry ; volume 41, issue S1, page S769-S769 ; ISSN 0924-9338 1778-3585
الاتاحة: http://dx.doi.org/10.1016/j.eurpsy.2017.01.1450
https://api.elsevier.com/content/article/PII:S0924933817314657?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0924933817314657?httpAccept=text/plain
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0924933800216246 -
6Academic Journal
المؤلفون: Kuseyri Hübschmann, Oya, Mohr, Alexander, Friedman, Jennifer, Manti, Filippo, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Alcoverro-Fortuny, Òscar, Gomez-Alemany, Teresa
المساهمون: Kuseyri Hübschmann O Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. Mohr A Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany. Friedman J UCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California. Manti F Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza, University of Rome, Rome, Italy. Horvath G University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada. Cortès-Saladelafont E Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain. Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol and Faculty of Medicine,Universitat Autònoma de Barcelona, Barcelona, Spain. Alcoverro-Fortuny O, Gómez-Alemany T Hospital General de Granollers, Granollers, Spain, Hospital General de Granollers
المصدر: Scientia
مصطلحات موضوعية: Ressonància magnètica, Neurotransmissors, Sistema nerviós - Malalties, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors::Congenital, Inborn Errors::Phenylketonurias, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Neurological::Neuroimaging, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo de los aminoácidos::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::fenilcetonurias, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas neurológicas::neuroimágenes, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas
وصف الملف: application/pdf
Relation: Journal of Inherited Metabolic Disease;44(4); https://doi.org/10.1002/jimd.12360; Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, et al. Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients. J Inherit Metab Dis. 2021 Jul;44(4):1070-1082.; https://hdl.handle.net/11351/6466