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

المؤلفون: Ridhi Sood, Chaithanya Reddy, Kirti Gupta, Azhar Navid, Neha Saharan, Jitendra Kumar Sahu, Balamurugan Thirunavukkarasu

المصدر: Clinical neuropathology. 40(5)

مصطلحات موضوعية: Male, Cerebellum, Pathology, medicine.medical_specialty, Autopsy, Pathology and Forensic Medicine, Cortex (anatomy), medicine, Humans, Menkes Kinky Hair Syndrome, medicine.diagnostic_test, business.industry, Cerebrum, Metabolic disorder, Brain, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, medicine.anatomical_structure, nervous system, Neurology, Gliosis, Menkes disease, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3867958a3b3a07e65f4fcff279fd3fc6Test
https://pubmed.ncbi.nlm.nih.gov/34032205Test

المؤلفون: Alexander Yule, Bilal Manzoor

المصدر: BMJ Paediatrics Open, Vol 5, Iss Suppl 1 (2021)

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Neurological examination, Lytic Bone Lesion, medicine.disease, Pediatrics, RJ1-570, Pseudomeningocele, Skull, medicine.anatomical_structure, Skull fracture, medicine, Menkes disease, Radiology, Coronal suture, business, Parietal bone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c227e26c20f44d4d00aa120f51d5681Test
https://doi.org/10.1136/bmjpo-2021-rcpch.89Test

المؤلفون: Briggs Carhart, Matthew Chaung, Taylor Wingfield, Sam Macklin-Isquierdo, Gary J. Bassell, Alexander Starr, Ileana Lorenzini, Zachary T. McEachin, Daniela C. Zarnescu, Paul R. August, Robert Bowser, Alexandre Betourne, Nadine Bakkar, Robert Kraft, Nicholas M. Boulis, Nathan Zahler, Justin K. Ichida, Samuel V. Alworth, Benjamin E. Rabichow, Wen-Hsuan Chang, Rita Sattler

المصدر: Neurobiology of Disease, Vol 149, Iss, Pp 105228-(2021)

مصطلحات موضوعية: 0301 basic medicine, ATP7A, Induced Pluripotent Stem Cells, Occipital horn syndrome, Biology, lcsh:RC321-571, Animals, Genetically Modified, 03 medical and health sciences, Mice, 0302 clinical medicine, Copper toxicity, C9orf72, medicine, Animals, Homeostasis, Humans, Amyotrophic lateral sclerosis, Motor Neuron Disease, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Cells, Cultured, Dose-Response Relationship, Drug, Neurodegeneration, Genetic Variation, Motor neuron, Copper transport, medicine.disease, iPSC derived motor neurons, Cell biology, Vesicular transport protein, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Neurology, Animals, Newborn, Copper-Transporting ATPases, Menkes disease, Drosophila, Intracellular transport, 030217 neurology & neurosurgery, Copper, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b093cb0d40dc3783f16c5e990d7e3bTest
http://www.sciencedirect.com/science/article/pii/S0969996120305039Test

المؤلفون: Piet Hoebeke, Aude Beyens, Sofie De Schepper, Sofie Symoens, Lore Pottie, Kyaran Van Meensel, Bart Loeys, Frank Plasschaert, Michiel De Bruyne, Bert Callewaert, Riet De Rycke, Femke Baeke

المصدر: Genes
Volume 10
Issue 7
Genes, Vol 10, Iss 7, p 528 (2019)
GENES

مصطلحات موضوعية: 0301 basic medicine, collagen, Male, Pathology, Connective Tissue Disorder, PROTEIN, Cutis Laxa, Protein-Lysine 6-Oxidase, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Child, Genetics (clinical), Middle Aged, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Child, Preschool, copper transport, Menkes' syndrome, Elastic fiber, CANDIDATE GENE, Adult, medicine.medical_specialty, Menkes syndrome, lcsh:QH426-470, Adolescent, Urinary Bladder, Occipital horn syndrome, review, Lysyl oxidase, PATIENT, ATP7A GENE, Article, 03 medical and health sciences, Young Adult, Genetics, ATP7A, Humans, occipital horn syndrome, business.industry, Biology and Life Sciences, Infant, NATURAL-HISTORY, medicine.disease, MENKES-DISEASE, elastic fiber, lcsh:Genetics, Diverticulum, 030104 developmental biology, SPLICE-SITE MUTATIONS, Ehlers–Danlos syndrome type IX, Ehlers–Danlos syndrome, Copper-Transporting ATPases, Ehlers-Danlos syndrome type IX, Menkes disease, Ehlers-Danlos Syndrome, Human medicine, business, SKIN FIBROBLASTS, EHLERS-DANLOS-SYNDROME, Cutis laxa

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb8c7fce99e884fced9a71b9de6b8b5Test
http://europepmc.org/articles/PMC6678539Test

المؤلفون: Mi Young Kim, Seong Heon Kim, Young Jae Im, Hee Gyung Kang, Kwanjin Park, Jong Hee Chae, Hae Il Cheong, Myung Hyun Cho, Ji Hyun Kim, Young Hun Choi

المصدر: Journal of Korean Medical Science

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Genotype, Urinary system, DNA Mutational Analysis, Urinary Bladder, Connective tissue, 03 medical and health sciences, 0302 clinical medicine, Urological complication, Urinary Bladder Diverticula, Chronic Kidney Disease, Correspondence, medicine, Humans, 030212 general & internal medicine, Menkes Kinky Hair Syndrome, Retrospective Studies, Ultrasonography, business.industry, Medical record, Retrospective cohort study, General Medicine, Prognosis, medicine.disease, ATP7A Gene, Hypotonia, Diverticulum, Menkes Disease, Phenotype, medicine.anatomical_structure, Copper-Transporting ATPases, Child, Preschool, Original Article, Urological Complication, Female, Menkes disease, medicine.symptom, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca4d431cecaf9dac6cb5c54e41c1423dTest
https://doi.org/10.3346/jkms.2019.34.e4Test

المؤلفون: Shigeo Kure, Mitsutoshi Munakata, Hideyo Takahashi, Norihiko Tani, Kazuo Maruyama, Yoshimasa Sakamoto, Hiroko Kodama, Kazuhiko Kimura

المصدر: Pediatric Research. 84:770-777

مصطلحات موضوعية: Male, Thiosemicarbazones, 0301 basic medicine, medicine.medical_specialty, ATP7A, Administration, Oral, Ileum, Weight Gain, Enteral administration, Mice, 03 medical and health sciences, 0302 clinical medicine, Coordination Complexes, Oral administration, Internal medicine, Animals, Medicine, Cytochrome c oxidase, Tissue Distribution, Menkes Kinky Hair Syndrome, Dose-Response Relationship, Drug, biology, business.industry, medicine.disease, Survival Rate, Disease Models, Animal, Dose–response relationship, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Copper-Transporting ATPases, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Menkes disease, Ceruloplasmin, business, Copper, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd636502917e2635b49aec758e62036bTest
https://doi.org/10.1038/s41390-018-0116-7Test

المؤلفون: Ryoko Nakamura, Toru Imagi, Ryutaro Kira, Pin Fee Chong, Kenichi Maeda, Reina Ogata, Nobuko Kawamura

المصدر: Journal of Trace Elements in Medicine and Biology. 54:172-174

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Copper metabolism, Central nervous system, ATP7A, 010501 environmental sciences, 01 natural sciences, Biochemistry, Gastroenterology, Drug Administration Schedule, Nephrotoxicity, Inorganic Chemistry, Social life, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Menkes Kinky Hair Syndrome, 0105 earth and related environmental sciences, business.industry, medicine.disease, Molecular analysis, medicine.anatomical_structure, Deletion mutation, Molecular Medicine, Administration, Intravenous, Menkes disease, business, Copper, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b864f984506f8dfb8d512050125149afTest
https://doi.org/10.1016/j.jtemb.2019.04.020Test

المؤلفون: M. Petris, S. Zhu, Kurt Baerlocher, Zeynep Tümer, N. Horn, S. Bilz, Lisbeth Birk Møller, J. Mercer, J. Bukrinski

المصدر: Clinical Genetics. 92:548-553

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, ATP7A, Physiology, chemistry.chemical_element, Connective tissue, Biology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Missense mutation, Menkes Kinky Hair Syndrome, Genetics (clinical), Disease progression, Infant, Newborn, Infant, medicine.disease, Copper, Protein Transport, 030104 developmental biology, Endocrinology, Key factors, medicine.anatomical_structure, chemistry, Copper-Transporting ATPases, Child, Preschool, Menkes disease, 030217 neurology & neurosurgery, Protein trafficking

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90699ef999ee159c8e03f7153695ba54Test
https://doi.org/10.1111/cge.13083Test

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/