المؤلفون: Rachel Sayuri Honjo, Débora Romeo Bertola, Stephen P. Robertson, Chong Ae Kim, Stephanie Pucci Pegler, Timothy R. Morgan, Vera Lúcia Jornada Krebs, Larissa Sampaio de Athayde Costa, Rute Facchini Lellis

المصدر: Revista da Associação Médica Brasileira, Vol 61, Iss 5, Pp 407-410 (2015)

مصطلحات موضوعية: Male, Proband, Pathology, medicine.medical_specialty, síndrome dos cabelos torcidos, Genetic counseling, Physiology, Fatal Outcome, Pregnancy, cobre, Organometallic Compounds, medicine, Humans, Histidine, Clinical significance, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Adenosine Triphosphatases, lcsh:R5-920, biology, business.industry, Infant, Newborn, Ceruloplasmin, ceruloplasmina, General Medicine, medicine.disease, Molecular Diagnostic Techniques, Copper-Transporting ATPases, biology.protein, Female, Menkes disease, lcsh:Medicine (General), Hair Diseases, business, Copper, Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ed7bd9eb7629078e541b508f18a704Test
https://doi.org/10.1590/1806-9282.61.05.407Test

المؤلفون: Khunton, Wichajarn, Waranon, Munkong

المصدر: Journal of the Medical Association of Thailand = Chotmaihet thangphaet. 99

مصطلحات موضوعية: Male, Humans, Infant, Genetic Counseling, Menkes Kinky Hair Syndrome, Thailand, Aneurysm, Iliac Artery, Magnetic Resonance Angiography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::69529b38952aa9fe05c537f4554cc37bTest
https://pubmed.ncbi.nlm.nih.gov/29906074Test

المؤلفون: Satoshi Kudo, Yasuyoshi Watanabe, Satoshi Nozaki, Hiroko Kodama, Takao Hoshina, Takashi Hamazaki, Haruo Shintaku, Yuka Nakatani

المصدر: Journal of inherited metabolic disease. 41(6)

مصطلحات موضوعية: 0301 basic medicine, Male, Central nervous system, Absorption (skin), Pharmacology, 03 medical and health sciences, Mice, Oral administration, Parenchyma, Disulfiram, Genetics, medicine, Animals, Menkes Kinky Hair Syndrome, Genetics (clinical), Drug Carriers, Mice, Inbred C3H, Chemistry, Wild type, medicine.disease, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Blood-Brain Barrier, Autoradiography, Menkes disease, Ex vivo, Copper, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a3c7c163e013e48f7d77c1debca7e95Test
https://pubmed.ncbi.nlm.nih.gov/30132231Test

المؤلفون: Pulkit Rangarh, Neera Kohli

المصدر: BMJ Case Rep

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Neurology, Neuroimaging, Magnetic resonance angiography, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Fatal Outcome, Rare Disease, medicine, Humans, Menkes Kinky Hair Syndrome, medicine.diagnostic_test, business.industry, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Cerebellar atrophy, Menkes disease, business, 030217 neurology & neurosurgery, Copper, Magnetic Resonance Angiography, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4081da16271daafea0e270e99bd3802cTest
https://pubmed.ncbi.nlm.nih.gov/29789304Test

المؤلفون: Fatma Gumruk, Seçil Sayın, Sule Unal, Mualla Cetin

المصدر: Turkish Journal of Hematology
Turkish Journal of Hematology, Vol 36, Iss 3, Pp 203-204 (2019)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, lcsh:Internal medicine, Myeloid, 030204 cardiovascular system & hematology, Vacuolization, Images in Hematology, 03 medical and health sciences, 0302 clinical medicine, Erythroid Cells, Bone Marrow, medicine, Humans, Myeloid Cells, 030212 general & internal medicine, lcsh:RC31-1245, Menkes Kinky Hair Syndrome, business.industry, lcsh:RC633-647.5, Hematology, lcsh:Diseases of the blood and blood-forming organs, Menkes disease, medicine.disease, Copper deficiency, medicine.anatomical_structure, Child, Preschool, Vacuoles, Bone marrow, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2c5c213f2a0d10dc8461959974cffcTest
https://pubmed.ncbi.nlm.nih.gov/29716882Test

المؤلفون: Renu Suthar, Indar Kumar Sharawat, Sameer Vyas, Naveen Sankhyan, Amit Rawat

المصدر: Neurology. 90(13)

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, 030105 genetics & heredity, Diagnosis, Differential, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, medicine, Humans, Menkes Kinky Hair Syndrome, Loose skin, integumentary system, business.industry, Generalized hypotonia, Pathogenic mutation, Infant, Anatomy, medicine.disease, medicine.anatomical_structure, Copper-Transporting ATPases, Scalp, Blood Vessels, Menkes disease, Neurology (clinical), business, Head, 030217 neurology & neurosurgery, Hair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90391df00bbeaae45fb79a780223706aTest
https://pubmed.ncbi.nlm.nih.gov/29581334Test

المؤلفون: Emily Zhang, Peter K. Weber, Tiffani J. Kuo, Bao Thai, Cheri M. Ackerman, Christopher J. Chang, Tong Xiao, Jennifer Pett-Ridge

المصدر: Metallomics : integrated biometal science, vol 10, iss 3
Ackerman, CM; Weber, PK; Xiao, T; Thai, B; Kuo, TJ; Zhang, E; et al.(2018). Multimodal LA-ICP-MS and nanoSIMS imaging enables copper mapping within photoreceptor megamitochondria in a zebrafish model of Menkes disease. Metallomics, 10(3), 474-485. doi: 10.1039/c7mt00349h. UC Berkeley: Retrieved from: http://www.escholarship.org/uc/item/3bx6675cTest

مصطلحات موضوعية: 0301 basic medicine, Spectrometry, Mass, Secondary Ion, Biochemistry, Multimodal Imaging, Analytical Chemistry, 0302 clinical medicine, Nanotechnology, 2.1 Biological and endogenous factors, Aetiology, Menkes Kinky Hair Syndrome, Zebrafish, biology, Chemistry, Neurodegeneration, Electrospray Ionization, Metals and Alloys, Cell biology, Mitochondria, Phenotype, Chemistry (miscellaneous), Neurological, Laser Therapy, Photoreceptor Cells, Vertebrate, Secondary Ion, Spectrometry, Mass, Electrospray Ionization, ATP7A, Biophysics, chemistry.chemical_element, Article, Biomaterials, 03 medical and health sciences, Copper-transporting ATPases, In vivo, Organelle, medicine, Animals, Photoreceptor Cells, Animal, Spectrometry, Vertebrate, Megamitochondria, Neurosciences, Mass, medicine.disease, biology.organism_classification, Copper, Disease Models, Animal, 030104 developmental biology, Copper-Transporting ATPases, Disease Models, Mutation, Chemical Sciences, Menkes disease, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed43a382785502eda36a8a81eff01912Test
https://escholarship.org/uc/item/3bx6675cTest

المؤلفون: Chyong-Hsin Hsu, Nien-Lu Wang, Chia-Huei Peng, Wai-Tao Chan, Hung-Chang Lee, Chuen-Bin Jiang, Shuan-Pei Lin, Chun-Yan Yeung

المصدر: Medicine

مصطلحات موضوعية: Male, medicine.medical_specialty, retroperitoneal hematoma, medicine.medical_treatment, Urinary system, Disease, vessel tortuosity, 03 medical and health sciences, 0302 clinical medicine, Hematoma, Laparotomy, medicine, Humans, Retroperitoneal Space, Clinical Case Report, Retroperitoneal hemorrhage, Menkes Kinky Hair Syndrome, Ultrasonography, Lung, business.industry, General Medicine, medicine.disease, Hemostasis, Surgical, Surgery, medicine.anatomical_structure, Treatment Outcome, 030220 oncology & carcinogenesis, Child, Preschool, copper, Menkes kinky hair disease, Menkes disease, Complication, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, intracranial hemorrhage, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e80df86d4f36b373a8e7d54c3c190aTest
https://pubmed.ncbi.nlm.nih.gov/29419699Test

المؤلفون: Hiroko Kodama

المصدر: Nihon eiseigaku zasshi. Japanese journal of hygiene. 73(1)

مصطلحات موضوعية: Male, Nephrosis, Physiology, chemistry.chemical_element, Breast milk, Iodine, Selenium, Hepatolenticular Degeneration, Hypothyroidism, Japan, Pregnancy, Diabetes mellitus, medicine, Humans, Menkes Kinky Hair Syndrome, business.industry, Infant, Newborn, General Medicine, medicine.disease, Trace Elements, Zinc, chemistry, Zinc deficiency, Menkes disease, Female, Clinical Medicine, Copper deficiency, business, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c940959a4f40fda4b9a50b4d9ed7a476Test
https://pubmed.ncbi.nlm.nih.gov/29386451Test

المؤلفون: Manara, R, D'Agata, L, Rocco, Mc, Cusmai, R, Freri, E, Pinelli, L, Darra, Francesca, Procopio, E, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases: Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Giordano, L, Dionisi Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, Gaetano, Zennaro, F.

المصدر: AJNR Am J Neuroradiol

مصطلحات موضوعية: Menkes disease, neuroimaging, MRI, Male, Pathology, medicine.medical_specialty, vascular abnormalities, Neuroimaging, Disease, Pediatrics, 030218 nuclear medicine & medical imaging, White matter, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Menkes Kinky Hair Syndrome, Retrospective Studies, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, Retrospective cohort study, Menkes disease, medicine.disease, White matter changes, Magnetic Resonance Imaging, White Matter, X-linked disorder, myelination delay, medicine.anatomical_structure, myelination delay, vascular abnormalities, X-linked disorder, copper metabolism, Disease Progression, Female, copper metabolism, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery, MRI

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28967a1da0d66985f44acfe99ae8f29aTest
https://europepmc.org/articles/PMC7963639Test/