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1
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 -
2
المؤلفون: Hannah Faith Greene, Byung-Eun Kim, Michael J. Petris, Mohammad Zulkifli, Liam M. Guthrie, James C. Sacchettini, Elyssa Nunez, Thomas Snavely, Arjun Acharya, Andres Silva, Vishal M. Gohil, Brogan Lynch, Vinit Shanbhag, Sai Yuan, Franklin R. Lopez, Shivatheja Soma, Courtney De Ville
المصدر: Science
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, ATP7A, Mitochondrion, Article, Cell Line, Electron Transport Complex IV, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Animals, Medicine, Cytochrome c oxidase, Menkes Kinky Hair Syndrome, Copper Transporter 1, Mice, Knockout, Multidisciplinary, biology, business.industry, Brain, Biological Transport, Neurodegenerative Diseases, Transporter, medicine.disease, Mitochondria, Rats, Multiple pathologies, Disease Models, Animal, Hydrazines, 030104 developmental biology, Endocrinology, chemistry, biology.protein, Elesclomol, Menkes disease, business, Copper deficiency, Copper, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8e07eb8a2db245d605c596bc6aa201Test
https://doi.org/10.1126/science.aaz8899Test -
3
المؤلفون: Jan Aaseth, Nina Horn, Valeria Marina Nurchi, Lisbeth Birk Møller
المصدر: Journal of Inorganic Biochemistry. 190:98-112
مصطلحات موضوعية: medicine.medical_specialty, 010405 organic chemistry, Chemistry, Copper toxicity, Copper export, chemistry.chemical_element, Disease, 010402 general chemistry, medicine.disease, 01 natural sciences, Biochemistry, Copper, 0104 chemical sciences, Inorganic Chemistry, Lipoic acid, chemistry.chemical_compound, Endocrinology, Internal medicine, medicine, Menkes disease, Chelation, Copper deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b5000125279fc3f599648161448c424bTest
https://doi.org/10.1016/j.jinorgbio.2018.10.009Test -
4
المؤلفون: Bruna Cristine Chwal, Ana Carolina de Freitas Lopes, Jonas Alex Morales Saute, Silvana Perini, Maria Angelica Pires Ferreira, Filippo Vairo
المصدر: Molecular Genetics and Metabolism. 126:6-13
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, MEDLINE, Prenatal diagnosis, Disease, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, Catecholamines, 0302 clinical medicine, Endocrinology, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Menkes Kinky Hair Syndrome, Intensive care medicine, Molecular Biology, Disease burden, Clinical Trials as Topic, business.industry, Guideline, medicine.disease, Early Diagnosis, Mutation, Practice Guidelines as Topic, Anxiety, Female, Menkes disease, medicine.symptom, business, Copper, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10af887e4cf24b76a1a02a888f578376Test
https://doi.org/10.1016/j.ymgme.2018.12.005Test -
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المؤلفون: Andrés Nascimento, Angels García-Cazorla, Abel Sola, Jaume Colomer, Daniel Natera-de Benito, Carlos Ortez, Jordi Muchart, Susana Boronat, Judith Armstrong, Paulo Rego Sousa, Francesc Palau, Cristina Jou, Janet Hoenicka, Mónica Rebollo, Jessica Expósito-Escudero, Laura Carrera-García
المصدر: PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ATP7A, Occipital horn syndrome, medicine.disease_cause, Cutis Laxa, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Internal medicine, Distal hereditary motor neuropathy, ATP7B, Medicine, Humans, Expressivity (genetics), Child, Mutation, Portugal, Região Autónoma da Madeira, business.industry, Copper toxicity, Copper replacement therapy, medicine.disease, Phenotype, Pedigree, ATP7A Gene, Endocrinology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Menkes disease, Ehlers-Danlos Syndrome, Neurology (clinical), business, 030217 neurology & neurosurgery, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1612c7f928bafcaf901dd15005785Test
https://pubmed.ncbi.nlm.nih.gov/33894639Test -
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المؤلفون: Wu, Xiaoyan, den Boer, Elise R, Vos-Loohuis, Manon, Monroe, Glen R, Nijman, Isaäc J, van Steenbeek, F.G., Leegwater, Peter A J, Fieten, Hille, Interne geneeskunde GD, dCSCA AVR, dCSCA RMSC-1, CS_Genetics
المساهمون: Interne geneeskunde GD, dCSCA AVR, dCSCA RMSC-1, CS_Genetics
المصدر: Life (Basel, Switzerland), 10(11). Multidisciplinary Digital Publishing Institute
Life
Volume 10
Issue 11
Life, Vol 10, Iss 266, p 266 (2020)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cirrhosis, 040301 veterinary sciences, ATP7A, Biology, Article, General Biochemistry, Genetics and Molecular Biology, RETN, 0403 veterinary science, Labrador retriever, 03 medical and health sciences, Internal medicine, ATP7B, medicine, Allele, lcsh:Science, Ecology, Evolution, Behavior and Systematics, Wilson disease, Fatty liver, Genetic disorder, Paleontology, 04 agricultural and veterinary sciences, Menkes disease, medicine.disease, 030104 developmental biology, Endocrinology, Space and Planetary Science, copper, dog, Labrador Retriever, lcsh:Q, Resistin, copper toxicosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb405b6926e1a49fa4542a886f29979Test
https://hdl.handle.net/1874/409747Test -
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المؤلفون: Justyna Antoniuk, Zenon Rajfur, Wojciech Krzeptowski, Aleksandra Bednarz, Robert Staroń, Rafał R. Starzyński, Zbigniew Baster, Aneta Jończy, Olga Pierzchała, Mateusz Ogórek, Małgorzata Lenartowicz, Paweł Lipiński, Paweł Grzmil
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863:1410-1421
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, mottled mice, Ferroportin, Mutant, ATP7A, Biology, medicine.disease_cause, 03 medical and health sciences, Internal medicine, Gene expression, medicine, Molecular Biology, Mutation, 030109 nutrition & dietetics, copper supplementation, medicine.disease, ATP7A Gene, 030104 developmental biology, Endocrinology, menkes disease, Immunology, biology.protein, Molecular Medicine, Menkes disease, ferroportin, iron metabolism, Copper deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::815fab39ca3e2e51e14feca38b289363Test
https://doi.org/10.1016/j.bbadis.2017.02.020Test -
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المؤلفون: Stephen G. Kaler, Evan Mauceli, Ling Yi, Arindam Bhattacharjee, Richard B. Parad, Tanya D. Sokolsky
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100625-(2020)مصطلحات موضوعية: Newborn screening, medicine.medical_specialty, ATP7A, Population, Computational biology, DNA sequencing, Endocrinology, Dried blood spots, Molecular genetics, Genetics, Medicine, Missense mutation, Copy-number variation, education, Molecular Biology, lcsh:QH301-705.5, education.field_of_study, lcsh:R5-920, business.industry, food and beverages, Menkes disease, medicine.disease, lcsh:Biology (General), business, lcsh:Medicine (General), Targeted next generation sequencing, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a8959039d33d60483d54243a9cf4534Test
https://pubmed.ncbi.nlm.nih.gov/32714836Test -
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المؤلفون: Lung S. Yam, Stephen G. Kaler, Carlos Ferreira
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100602-(2020)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Duchenne muscular dystrophy, Short Communication, ATP7A, Population, Nonsense mutation, Hardy-Weinberg equilibrium, Biology, Endocrinology, Allelic frequency, Genetics, medicine, Allele, education, lcsh:QH301-705.5, Molecular Biology, Allele frequency, lcsh:R5-920, Newborn screening, education.field_of_study, Menkes disease, medicine.disease, gnomAD, lcsh:Biology (General), lcsh:Medicine (General)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e680e27bd40e23065dff84f8f9fab50Test
https://pubmed.ncbi.nlm.nih.gov/32528851Test -
10
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
