المؤلفون: Mastrangelo, Mario, Gasparri, Valentina, Bernardi, Katerina, Foglietta, Silvia, Ramantani, Georgia, Pisani, Francesco

المصدر: Mastrangelo, Mario; Gasparri, Valentina; Bernardi, Katerina; Foglietta, Silvia; Ramantani, Georgia; Pisani, Francesco (2023). Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review. Children, 10(3):553.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, ALDH7A1 deficiency, GPI anchor defects, PLPBP deficiency, PNPO deficiency, hyperprolinemia type II, metabolic epilepsies, pyridoxine-dependent epilepsies

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/256061/1/ZORA_256061.pdf; info:pmid/36980111; urn:issn:2227-9067

الاتاحة: https://www.zora.uzh.ch/id/eprint/256061/
https://www.zora.uzh.ch/id/eprint/256061/1/ZORA_256061.pdf
https://doi.org/10.3390/children10030553

المؤلفون: Korteling, D., Boks, M.P., Fiksinski, A.M., van Hoek, I.N., Vorstman, J.A.S., Verhoeven-Duif, N.M., Jans, J.J.M., Zinkstok, J.R.

المصدر: Korteling , D , Boks , M P , Fiksinski , A M , van Hoek , I N , Vorstman , J A S , Verhoeven-Duif , N M , Jans , J J M & Zinkstok , J R 2022 , ' Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome ' , Translational Psychiatry , vol. 12 , no. 1 , 97 . https://doi.org/10.1038/s41398-022-01859-4

مصطلحات موضوعية: DISORDERS, CHILDREN, HYPERPROLINEMIA, BRAIN, RISK

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/5652c639-f30e-4d96-95bd-f73580555e4e
https://doi.org/10.1038/s41398-022-01859-4

المؤلفون: Jeremias Motte, Anna Lena Fisse, Thomas Grüter, Ruth Schneider, Thomas Breuer, Thomas Lücke, Stefan Krueger, Huu Phuc Nguyen, Ralf Gold, Ilya Ayzenberg, Gisa Ellrichmann

المصدر: BMC Neurology, Vol 19, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Hyperprolinemia type II, ALDH4A1 gene, Epilepsy, Vitamin B6 metabolism, Proline, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/0f30cc2e11474cca8e89ed75b9f061b3

المؤلفون: Duarte, M., Moreira, A., Antunes, D., Ferreira, Cristina, Correia, Hildeberto, Sequeira, S., Marques, M.

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Hyperprolinemia, DiGeorge Syndrome, 22q11.2 Deletion, Velocardiofacial Syndrome, Neuropsychiatric Disorders, Doenças Genéticas

وصف الملف: application/pdf

Relation: 0141-8955

الاتاحة: http://hdl.handle.net/10400.18/3928

المؤلفون: Pavone, Piero, Praticò, Andrea D., Sorge, Giovanni, Meli, Concetta, Ruggieri, Martino, Rizzo, Renata, Fiumara, Agata

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2017 5

مصطلحات موضوعية: brain dysfunction, hyperprolinemia type I, metabolic anomaly, POX deficiency, psychomotor retardation

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100802

المؤلفون: Ania Fiksinski, Janneke Zinkstok, Geertje Ingena Angelique Both, Nanda M. Verhoeven-Duif, Yasmin Namavar, Jacob Abraham Schrey Vorstman, Denise Joanne Duineveld

المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 186:289-317

مصطلحات موضوعية: medicine.medical_specialty, Psychosis, Proline, Cellular and Molecular Neuroscience, 22q11 Deletion Syndrome, PRODH, Intellectual Disability, Intellectual disability, Proline Oxidase, medicine, Humans, ALDH4A1, Psychiatry, Genetics (clinical), 22q11 deletion syndrome, Mechanism (biology), business.industry, medicine.disease, Phenotype, mental disorders, Psychiatry and Mental health, Case-Control Studies, hyperprolinemia, Hyperprolinemia, Autism, business, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523a61dc6945ffcc4eb823b05d55d67a
https://doi.org/10.1002/ajmg.b.32869

المؤلفون: Hugdahl, Kenneth, Sommer, Iris E.

المصدر: Hugdahl , K & Sommer , I E 2018 , ' Auditory Verbal Hallucinations in Schizophrenia from a Levels of Explanation Perspective ' , Schizophrenia Bulletin , vol. 44 , no. 2 , pp. 234-241 . https://doi.org/10.1093/schbul/sbx142

مصطلحات موضوعية: auditory hallucinations, schizophrenia, cognition, neuroimaging, neurochemistry, dichotic listening, fMRI, glutamate, levels of explanation (LoE), H-1 MRS, BRAIN, VOICES, CORTEX, HYPERPROLINEMIA, NEUROANATOMY, METAANALYSIS, INDIVIDUALS, SPEECH

الاتاحة: https://hdl.handle.net/11370/d4d0ee14-4142-4654-95db-ffd7706f3df5
https://research.rug.nl/en/publications/d4d0ee14-4142-4654-95db-ffd7706f3df5
https://doi.org/10.1093/schbul/sbx142
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814913

المؤلفون: Carmen F. M. van Hooijdonk, Desmond H. Y. Tse, Julia Roosenschoon, Jenny Ceccarini, Jan Booij, Therese A. M. J. van Amelsvoort, Claudia Vingerhoets

المساهمون: Psychiatry 3, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Psychiatry 1, Radiology and Nuclear Medicine, ANS - Brain Imaging, ANS - Compulsivity, Impulsivity & Attention

المصدر: Genes, 13(9):1672. Multidisciplinary Digital Publishing Institute (MDPI)
Genes; Volume 13; Issue 9; Pages: 1672
Genes

مصطلحات موضوعية: DISORDERS, Dopamine, Glutamine, Proton Magnetic Resonance Spectroscopy, Glutamic Acid, glutamate, 22q11.2 deletion syndrome, dopamine, psychotic disorders, cognitive dysfunction, PSYCHOSIS, AGE, Cognition, DiGeorge Syndrome/diagnostic imaging, MAGNETIC-RESONANCE, SCHIZOPHRENIA, Genetics, Humans, BRAIN, METAANALYSIS, Genetics (clinical), Genetics & Heredity, Science & Technology, STRIATAL DOPAMINE, 2 deletion syndrome, 22q11, HYPERPROLINEMIA, MODEL, Cross-Sectional Studies, Positron-Emission Tomography, Benzamides, Life Sciences & Biomedicine

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5bd264e6548cd4c9e8f97d417b037ea
https://cris.maastrichtuniversity.nl/en/publications/2ebafbf5-b12f-4647-90ab-1026abad3ae6

المؤلفون: Khashti Ballabh Joshi, Shanka Walia, Ramesh Singh, Nidhi Gour, Dhiraj Bhatia, Vivekshinh Kshtriya, Bharti Koshti

المصدر: ACS Chemical Neuroscience. 12:3237-3249

مصطلحات موضوعية: chemistry.chemical_classification, Methionine, Proline, Physiology, Lysine, Cognitive Neuroscience, Hyperlysinemia, Phenylalanine, Cell Biology, General Medicine, medicine.disease, Biochemistry, Amino acid, Tyrosinemia, Hydroxyproline, Amyloid disease, chemistry.chemical_compound, chemistry, medicine, Hyperprolinemia, Tyrosine, Amino Acids, Hypermethioninemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06212d794ed69fb0c8ce36aa27fd334d
https://doi.org/10.1021/acschemneuro.1c00427

المؤلفون: Duarte, M, Afonso, J, Moreira, A, Antunes, D, Ferreira, C, Correia, H, Marques, M, Sequeira, S

مصطلحات موضوعية: 22q11 Deletion Syndrome, Hyperprolinemia Type I, PRODH Gene, Schizophrenia, Valproic Acid, Case Report, HDE PEDOP, HDE NEU PED, HDE GEN, HDE MTB

Relation: Brain Dev. 2017 Jun;39(6):539-541; http://hdl.handle.net/10400.17/2899

الاتاحة: http://hdl.handle.net/10400.17/2899
https://doi.org/10.1016/j.braindev.2017.01.008

المؤلفون: Samanta Oliveira Loureiro, Angela T. S. Wyse, Andréa G. K. Ferreira, Daniele Susana Volkart Sidegum, Helena Biasibetti-Brendler, Fabrício Figueiró

المصدر: Neurotoxicity Research. 39:327-334

مصطلحات موضوعية: 0301 basic medicine, Cell signaling, Proline, Toxicology, medicine.disease_cause, Superoxide dismutase, 03 medical and health sciences, 0302 clinical medicine, Cell Line, Tumor, medicine, Animals, Protein kinase B, Cell Death, biology, Chemistry, Cell growth, General Neuroscience, Cell Cycle, Cell cycle, medicine.disease, Rats, Cell biology, Oxidative Stress, 030104 developmental biology, biology.protein, Hyperprolinemia, Glioblastoma, 030217 neurology & neurosurgery, Oxidative stress, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5df8d42b9b8d01d5204a4dd0279148ae
https://doi.org/10.1007/s12640-020-00311-z

المؤلفون: Yasutaka Tastuzawa, Kanako Sekinaka, Tetsufumi Suda, Hiroshi Matsumoto, Hiroyuki Otabe, Shigeaki Nonoyama, Aihide Yoshino

المصدر: Epilepsy and Behavior Case Reports, Vol 3, Iss C, Pp 36-38 (2015)

مصطلحات موضوعية: 22q11.2 deletion syndrome, Hyperprolinemia, Mental retardation, Epilepsy, Interictal psychosis, Phenytoin-induced hypocalcemia, DiGeorge syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213323215000109; https://doaj.org/toc/2213-3232

URL الوصول: https://doaj.org/article/7e59336db49545628c8c509f5e540c9e

المؤلفون: Richard, Anne-Claire, Rovelet-Lecrux, Anne, Delaby, Elsa, Charbonnier, Camille, Thiruvahindrapuram, Bhooma, Hatchwell, Eli, Eis, Peggy, S, Afenjar, Alexandra, Dussardier, Brigitte Gilbert, Scherer, Stephen, W, Betancur, Catalina, Campion, Dominique

المساهمون: Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroscience Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, Population Diagnostics, Inc., CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), McLaughlinCentreandDepartmentofMolecularGenetics, University of Toronto, Centre Hospitalier du Rouvray, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)

المصدر: ISSN: 1552-4841 ; EISSN: 1552-485X.

مصطلحات موضوعية: 22q11.2 deletion, autism, hyperprolinemia, copy number variant, proline dehydrogenase, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/26978485; PUBMED: 26978485

الاتاحة: https://inserm.hal.science/inserm-01289348
https://inserm.hal.science/inserm-01289348v1/document
https://inserm.hal.science/inserm-01289348v1/file/Richard%20PRODH%20AJMGB%202016.pdf
https://doi.org/10.1002/ajmg.b.32416

المؤلفون: Dorinde Korteling, Marco P. Boks, Ania M. Fiksinski, Ilja N. van Hoek, Jacob A. S. Vorstman, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Janneke R. Zinkstok

المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie

المصدر: Translational Psychiatry, 12, 1
Translational Psychiatry, 12(1):97. Nature Publishing Group
Translational Psychiatry, 12

مصطلحات موضوعية: RISK, Intelligence Tests, DISORDERS, Autism Spectrum Disorder, Intelligence, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], CHILDREN, HYPERPROLINEMIA, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Phenotype, DiGeorge Syndrome, Humans, BRAIN, Biological Psychiatry

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::872a61f3c6a41b9c5dcddf54051acbc8
https://pubmed.ncbi.nlm.nih.gov/35264571

المؤلفون: Rina Hama, Keishin Sugawara, Jun Kido, Kimitoshi Nakamura, Toshiro Nakamura

المصدر: Human Genome Variation, Vol 8, Iss 1, Pp 1-5 (2021)
Human Genome Variation

مصطلحات موضوعية: 0301 basic medicine, QH426-470, Biology, Biochemistry, Short stature, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Life, QH501-531, Intellectual disability, Data Report, Genetics, medicine, Molecular Biology, Sanger sequencing, Proline oxidase, Metabolic disorder, Autism spectrum disorders, medicine.disease, 030104 developmental biology, PRODH gene, Calcium and phosphate metabolic disorders, Mutation (genetic algorithm), symbols, medicine.symptom, Hyperprolinemia type I, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbcdb2c0636158ee5678f32fdcc69e2
https://doi.org/10.1038/s41439-021-00159-5

المؤلفون: Arushi Gahlot Saini, Pradip Paria, Rajdeep Kaur, Savita Verma Attri, Renu Suthar, Vikas Bhatia

المصدر: Metabolic brain disease. 36(6)

مصطلحات موضوعية: 0301 basic medicine, Drug Resistant Epilepsy, Proline, media_common.quotation_subject, Encephalopathy, Nonsense, Biology, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, Exon, 0302 clinical medicine, medicine, Humans, Gene, Amino Acid Metabolism, Inborn Errors, media_common, Genetics, Respiratory infection, Brain, Genetic Variation, Infant, Electroencephalography, DNA, medicine.disease, Magnetic Resonance Imaging, 1-Pyrroline-5-Carboxylate Dehydrogenase, 030104 developmental biology, Inborn error of metabolism, Codon, Nonsense, Hyperprolinemia, Female, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::959216b89ae93738aed4f192b3d3c4c0
https://pubmed.ncbi.nlm.nih.gov/34037900

المؤلفون: Namavar, Yasmin, Duineveld, Denise Joanne, Both, Geertje Ingena Angelique, Fiksinski, Ania Maria, Vorstman, Jacob Abraham Schrey, Verhoeven-Duif, Nanda Margriet, Zinkstok, Janneke Rozemarijn

المساهمون: AIOS Psychiatrie, Integrale & Algemene Kindergen Onderzoek, Ontwikkelingsstoornissen Med.

مصطلحات موضوعية: 22q11 deletion syndrome, ALDH4A1, hyperprolinemia, mental disorders, PRODH, Genetics(clinical), Psychiatry and Mental health, Cellular and Molecular Neuroscience, Review, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/443247

الاتاحة: https://dspace.library.uu.nl/handle/1874/443247

المؤلفون: Serdar Ceylaner, Semra Yılmaz, Melike Ersoy

المصدر: Indian journal of pediatrics. 88(6)

مصطلحات موضوعية: Disturbance (geology), Antioxidant, business.industry, medicine.medical_treatment, MEDLINE, medicine.disease, Bioinformatics, Antioxidants, Pediatrics, Perinatology and Child Health, Hyperprolinemia, medicine, Humans, Speech, Amino acid metabolism, business, Amino Acid Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b0a58d9f15e89a01db572e521268c8
https://pubmed.ncbi.nlm.nih.gov/33772430

المؤلفون: John J. Tanner

المصدر: Antioxidants & Redox Signaling. 30:650-673

مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Proline, Physiology, Clinical Biochemistry, Substrate channeling, Dehydrogenase, Biology, Biochemistry, 03 medical and health sciences, Proline dehydrogenase, Proline Oxidase, medicine, Animals, Humans, Protein oligomerization, Molecular Biology, General Environmental Science, chemistry.chemical_classification, Molecular Structure, Catabolism, Cell Biology, Forum Review Articles, medicine.disease, 030104 developmental biology, Enzyme, chemistry, Biocatalysis, Hyperprolinemia, General Earth and Planetary Sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d06fc01000df27ce7cd37c2e944512
https://doi.org/10.1089/ars.2017.7374

المؤلفون: Rahman zadeh, Saeid, Shahbaz Mohammadi, Hamid, karimipour, Morteza, Heidari keshel, Saeed

المصدر: Archives of Advances in Biosciences; Vol. 3 No. 1 (2012): Winter ; 2783-1264 ; 10.22037/jps.v3i1

مصطلحات موضوعية: Schizophrenia, PRODH, Proline, Hyperprolinemia

وصف الملف: application/pdf

Relation: https://journals.sbmu.ac.ir/aab/article/view/2916/2613; https://journals.sbmu.ac.ir/aab/article/view/2916

الاتاحة: https://journals.sbmu.ac.ir/aab/article/view/2916
https://doi.org/10.22037/jps.v3i1.2916