المؤلفون: Juncheng Zhu, Yi Liao, Xuesheng Li, Fenglin Jia, Xinmao Ma, Haibo Qu

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Menkes disease, Copper metabolism disorder, Brain, Bone, Image, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/49841dc6cf104cd0a54e397403a4086aTest

المؤلفون: Peep Palumaa

المصدر: Proceedings of the Estonian Academy of Sciences, Vol 72, Iss 4, Pp 382-392 (2023)

مصطلحات موضوعية: copper metabolism, wilson’s disease, menkes disease, alzheimer’s disease, copper chelation, copper ionophores, lipoid acid, Science

وصف الملف: electronic resource

العلاقة: https://kirj.ee/wp-content/plugins/kirj/pub/proc-4-2023-382-392_20231102003250.pdfTest; https://doaj.org/toc/1736-6046Test; https://doaj.org/toc/1736-7530Test

الوصول الحر: https://doaj.org/article/1220b86ace9447498ffe3cafe5d28c1fTest

المؤلفون: Harkness, J. Robert, Thomas, Huw B., Urquhart, Jill E., Jamieson, Peter, O'Keefe, Raymond T., Kingston, Helen M., Deshpande, Charulata, Newman, William G.

المصدر: Harkness , J R , Thomas , H B , Urquhart , J E , Jamieson , P , O'Keefe , R T , Kingston , H M , Deshpande , C & Newman , W G 2024 , ' Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype ' , European journal of medical genetics , vol. 67 , 104907 . https://doi.org/10.1016/j.ejmg.2023.104907Test

مصطلحات موضوعية: ATP7A, Deep intronic variant, Genome, Menkes disease, Non-coding, Occipital horn syndrome, Rare disease, Splicing

العلاقة: https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104907Test
https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest
http://www.scopus.com/inward/record.url?scp=85181260168&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/d00564bd-ebb5-37e1-8e39-4a848c83160cTest/

المؤلفون: Токарчук, Н., Чекотун, Т., Старинець, Л., Антонець, В., Станіславчук, Л.

المصدر: Neonatology, Surgery and Perinatal Medicine; Vol. 14 No. 1(51) (2024): NEONATOLOGY, SURGERY AND PERINATAL MEDICINE; 141-149 ; Неонатология, хирургия и перинатальная медицина; Том 14 № 1(51) (2024): НЕОНАТОЛОГІЯ, ХІРУРГІЯ ТА ПЕРИНАТАЛЬНА МЕДИЦИНА; 141-149 ; Неонатологія, хірургія та перинатальна медицина; Том 14 № 1(51) (2024): НЕОНАТОЛОГІЯ, ХІРУРГІЯ ТА ПЕРИНАТАЛЬНА МЕДИЦИНА; 141-149 ; 2413-4260 ; 2226-1230

مصطلحات موضوعية: Menkes disease, Infant, Diagnosis, хвороба Менкеса, дитина малюкового віку, діагностика

وصف الملف: application/pdf

العلاقة: http://neonatology.bsmu.edu.ua/article/view/301373/293516Test; http://neonatology.bsmu.edu.ua/article/view/301373Test

الإتاحة: http://neonatology.bsmu.edu.ua/article/view/301373Test

المؤلفون: Sabina Więcek, Justyna Paprocka

المصدر: Metabolites, Vol 14, Iss 1, p 38 (2024)

مصطلحات موضوعية: copper metabolism, Menkes disease, Wilson’s disease, children, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2218-1989/14/1/38Test; https://doaj.org/toc/2218-1989Test

الوصول الحر: https://doaj.org/article/9e13bbd081dd4084961ac2e28088a838Test

المؤلفون: Laura El Nachef, Joëlle Al-Choboq, Michel Bourguignon, Nicolas Foray

المصدر: Biomolecules, Vol 13, Iss 12, p 1746 (2023)

مصطلحات موضوعية: Menkes’ disease, Wilson’s disease, ionizing radiation, radiosensitivity, ATM protein, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2218-273X/13/12/1746Test; https://doaj.org/toc/2218-273XTest

الوصول الحر: https://doaj.org/article/7f7ab3ecb0c849f5a07aa1a447cee52dTest

المؤلفون: Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: case report, Menkes disease, novel ATP7A variant, ACY deficiency, overlapping phenotype, delayed copper therapy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/d1d5fd7869b040fb9901fef9c3fa9711Test

المؤلفون: Mauri, Alessia, Saielli, Laura Assunta, Alfei, Enrico, Iascone, Maria, Marchetti, Daniela, Cattaneo, Elisa, Di Lauro, Anna, Antonelli, Laura, Alberti, Luisella, Bonaventura, Eleonora, Veggiotti, Pierangelo, Spaccini, Luigina, Cereda, Cristina

المساهمون: A. Mauri, L.A. Saielli, E. Alfei, M. Iascone, D. Marchetti, E. Cattaneo, A. Di Lauro, L. Antonelli, L. Alberti, E. Bonaventura, P. Veggiotti, L. Spaccini, C. Cereda

مصطلحات موضوعية: ACY deficiency, Menkes disease, case report, delayed copper therapy, novel ATP7A variant, overlapping phenotype, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36936426; info:eu-repo/semantics/altIdentifier/wos/WOS:000952606100001; volume:14; firstpage:1; lastpage:7; numberofpages:7; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/2434/961129Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150341579

الإتاحة: https://doi.org/10.3389/fgene.2023.1077625Test
https://hdl.handle.net/2434/961129Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/S2_Fig_-/21861174Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s002Test

المؤلفون: Clorissa L. Washington-Hughes (14375205), Shubhrajit Roy (14213114), Herana Kamal Seneviratne (8502042), Senthilkumar S. Karuppagounder (8656866), Yulemni Morel (14375208), Jace W. Jones (750609), Alex Zak (14375211), Tong Xiao (12431), Tatiana N. Boronina (14375214), Robert N. Cole (82811), Namandjé N. Bumpus (5089418), Christopher J. Chang (151940), Ted M. Dawson (139536), Svetlana Lutsenko (156211)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Developmental Biology, Biological Sciences not elsewhere classified, +copper%22">xlink "> copper, menkes disease protein, chpl &# 8217, despite normal expression, atp7b causes reorganization, significant cu deficit, limits cu transport, chpl lacking atp7b, postnatal development atp7b, identify metabolic changes, metabolic changes, chpl ), normal morphology, notable changes, brain development, cu deficiency, activates cu, results identify, remains intracellular, phosphatidylethanolamine conversion, older animals

العلاقة: https://figshare.com/articles/journal_contribution/_top_two_panels_Representative_average_full_scan_mass_spectra_of_derivatized_DA_and_NE_in_brain_tissue_exhibiting_the_detection_of_their_ions_at_m_z_258_1485_and_274_1435_respectively_/21861186Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1010558.s006Test