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المصدر: Gaceta Médica de México. 155
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, chemistry, business.industry, Internal medicine, medicine, chemistry.chemical_element, Menkes disease, General Medicine, medicine.disease, business, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::448429ace2d755f52a9062a5bcbace90Test
https://doi.org/10.24875/gmm.m19000253Test -
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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. 14
مصطلحات موضوعية: novel ATP7A variant, Genetics, case report, Molecular Medicine, ACY deficiency, Menkes disease, overlapping phenotype, delayed copper therapy, Settore MED/39 - Neuropsichiatria Infantile, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65fdc48056abb31530c0b4b309e19227Test
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المؤلفون: Alma Cruz, Marely Santiago-Vázquez, Alvaro J Ramos, Julián Barrera, Eduardo A. Michelen-Gómez, Janice Rodriguez, Marisel Vázquez Correa
المصدر: JAAD Case Reports
JAAD Case Reports, Vol 18, Iss, Pp 33-36 (2021)مصطلحات موضوعية: Pathology, medicine.medical_specialty, LM, light microscopy, Case Report, Dermatology, trichorrhexis nodosa, medicine, MD, Menkes disease, Pili torti, Brittle hair, business.industry, TN, trichorrhexis nodosa, Trichorrhexis nodosa, pili torti, medicine.disease, LM - Light microscopy, Menkes Disease, PT, pili torti, RL1-803, Etiology, Menkes disease, brittle hair, medicine.symptom, business, seizures of unknown etiology, ATP7A gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab8986fcb386a9fa1d3cc4e53365956eTest
http://europepmc.org/articles/PMC8590027Test -
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المؤلفون: Kiyomi Ito, Yoshiaki Yamagishi, Taiki Akashi, Shohei Kobayashi, Toshiyuki Kudo, Takeaki Kawakami, Hideyo Takahashi, Yasuhiro Sato, Masafumi Oyumi, Kosho Makino, Masakazu Mimaki, Hitomi Goda, Mitsutoshi Munakata, Hiroko Kodama, Toshiro Fukami, Kazuki Takahashi, Yusuke Sakamoto
المصدر: Pharmaceutical Research. 38:1335-1344
مصطلحات موضوعية: Male, Thiosemicarbazones, Drug, media_common.quotation_subject, Cmax, Administration, Oral, Pharmaceutical Science, Absorption (skin), Pharmacology, Mice, Pharmacokinetics, Coordination Complexes, medicine, Animals, Pharmacology (medical), Particle Size, Menkes Kinky Hair Syndrome, media_common, Mice, Inbred C3H, Drug candidate, business.industry, Organic Chemistry, medicine.disease, Disease Models, Animal, Murine model, Molecular Medicine, Menkes disease, business, Biotechnology, Blood sampling
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728333d039b54894a1f3d38aba6dca00Test
https://doi.org/10.1007/s11095-021-03090-0Test -
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المؤلفون: Ruolan Hu, Fei Xiong, Mingyan Jiang, Jialing Wang, Jinrong Li, Ruixin Yu
المصدر: Transl Pediatr
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Internal capsule, business.industry, Case Report, Gene mutation, medicine.disease, Hypsarrhythmia, Frameshift mutation, Pediatrics, Perinatology and Child Health, medicine, Menkes disease, medicine.symptom, business, Developmental regression, Cutis laxa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2b3174c9d113d5028de717c71e2715Test
https://doi.org/10.21037/tp-21-275Test -
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المؤلفون: Anna Rozensztrauch, Izabela Dzien, Robert Śmigiel
المصدر: Journal of Clinical Medicine
Volume 12
Issue 5
Pages: 1769مصطلحات موضوعية: quality of life, rare disease, Menkes disease, General Medicine, family impact
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05c73cd05879999777dfdf8b548b7c2fTest
https://doi.org/10.3390/jcm12051769Test -
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المؤلفون: Mario Mastrangelo, Silvia Ceccanti, Denis A. Cozzi, Gianmarco Andreoli
المصدر: Asian Journal of Endoscopic Surgery. 14:553-556
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Patch repair, Congenital diaphragmatic hernia, General Medicine, medicine.disease, Extracorporeal, Surgery, Diaphragm (structural system), Diaphragmatic defect, Abdominal wall, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, congenital diaphragmatic hernia, copper deficiency, spiral tacks, medicine, 030211 gastroenterology & hepatology, Menkes disease, Hernia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22dc363f2d78bf17a6cdca3e6d26e3aTest
https://doi.org/10.1111/ases.12865Test -
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المؤلفون: Olga Haberkiewicz, Paweł Lipiński, Rafał R. Starzyński, Aneta Jończy, Patrycja Kurowska, Mateusz Ogórek, Aleksandra Bednarz, Sylwia Herman, Dawid Hatala, Paweł Grzmil, Zenon Rajfur, Zbigniew Baster, Małgorzata Lenartowicz
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11441
مصطلحات موضوعية: kidney, Organic Chemistry, CTR1 protein, Slc31a1 gene, Slc31a2 gene, copper, Menkes disease, General Medicine, Catalysis, Computer Science Applications, Inorganic Chemistry, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4602fdbc5ed21b210c24959a070c7bTest
https://ruj.uj.edu.pl/xmlui/handle/item/301384Test -
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المؤلفون: Tigest Hailu, Nebiyu Bekele, Abilo Tadesse, Zerubabel Tegegne, Frew Ewnetu
المصدر: Case Reports in Medicine
Case Reports in Medicine, Vol 2020 (2020)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Copper metabolism, Urinary system, Case Report, General Medicine, Disease, medicine.disease, Hyperintensity, Wilson's disease, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Basal ganglia, medicine, Medicine, 030211 gastroenterology & hepatology, Menkes disease, business, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53cb2e8d6142450db88326cf25df460Test
https://doi.org/10.1155/2020/7650170Test