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1
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 -
2
المؤلفون: Antonietta Lombardo, Helena Santos, Cecilia Surace, Elsa Bevivino, Pietro Sirleto, Carlo Dionisi-Vici, Adriano Angioni, Enrico Bertini, Sara Boenzi, Anna Cristina Tomaiuolo
المصدر: Pediatric Research. 65:347-351
مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, ATP7A, Chromosomal translocation, Biology, Translocation, Genetic, X-inactivation, X Chromosome Inactivation, medicine, Humans, Child, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Skewed X-inactivation, In Situ Hybridization, Fluorescence, X chromosome, Adenosine Triphosphatases, Genetics, Chromosomes, Human, X, medicine.diagnostic_test, Cerebral Arteries, medicine.disease, FMR1, Phenotype, Copper-Transporting ATPases, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Menkes disease, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d69966d0023f26c0874b97e7c92f88cTest
https://doi.org/10.1203/pdr.0b013e3181973b4eTest -
3
المؤلفون: Mika Watanabe, Shigeru Tsuchiya, Chie Fujisawa, Mitsutoshi Munakata, Masazumi Nishikawa, Hiroko Kodama, Kazuhiko Kimura, Tomoko Hiroki
المصدر: Pediatric research. 72(3)
مصطلحات موضوعية: Male, Thiosemicarbazones, medicine.medical_specialty, Pathology, Urinary system, ATP7A, chemistry.chemical_element, Electron Transport Complex IV, Mice, Internal medicine, medicine, Organometallic Compounds, Cytochrome c oxidase, Animals, Secretion, Menkes Kinky Hair Syndrome, Kidney, Mice, Inbred C3H, Hematology, biology, Biological Transport, medicine.disease, Copper, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, biology.protein, Menkes disease, beta 2-Microglobulin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af38e6e5c62710cebf695d94e4b8bebTest
https://pubmed.ncbi.nlm.nih.gov/22728746Test -
4
المصدر: Pediatric Research. 27:492-496
مصطلحات موضوعية: Male, medicine.medical_specialty, Mutant, chemistry.chemical_element, Biology, Kidney, Excretion, Mice, Internal medicine, medicine, Animals, Menkes Kinky Hair Syndrome, Brain Diseases, Metabolic, Genetic Carrier Screening, Myocardium, Metabolism, Copper, Mice, Inbred C57BL, Endocrinology, medicine.anatomical_structure, Copper Radioisotopes, Liver, chemistry, Hepatocyte, Injections, Intravenous, Pediatrics, Perinatology and Child Health, Female, Intracellular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5425363689a74975c006353994f73546Test
https://doi.org/10.1203/00006450-199005000-00015Test -
5
المؤلفون: Tsunenobu Tamura, Alan K. Percy, Joseph R Prohaska, Judith R. Turnlund
المصدر: Pediatric research. 42(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, chemistry.chemical_element, Peptidylglycine monooxygenase, In Vitro Techniques, Mixed Function Oxygenases, Multienzyme Complexes, Internal medicine, Blood plasma, medicine, Humans, Menkes Kinky Hair Syndrome, biology, Ceruloplasmin, Biological Transport, medicine.disease, Copper, Stimulation, Chemical, Endocrinology, chemistry, Case-Control Studies, Child, Preschool, Occipital Bone, Pediatrics, Perinatology and Child Health, biology.protein, Menkes disease, Menkes' syndrome, Copper deficiency, Peptidylglycine alpha-amidating monooxygenase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fb3b271c7c7d27f4140259d94d33b04Test
https://pubmed.ncbi.nlm.nih.gov/9396570Test -
6
المؤلفون: Jane Gitschier, Masahiko Nishimura, Norio Ishida, Yoshiko Murata, Barbara Levinson, Hiroko Kodama, Seymour Packman, Toshiaki Abe
المصدر: Pediatric research. 42(4)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, DNA, Complementary, Recombinant Fusion Proteins, Mutant, DNA Mutational Analysis, Gene Expression, Biology, medicine.disease_cause, Kidney, Mice, Gene expression, medicine, Missense mutation, Animals, RNA, Messenger, Menkes Kinky Hair Syndrome, Cation Transport Proteins, In Situ Hybridization, Adenosine Triphosphatases, Brain Chemistry, Mutation, Mice, Inbred C3H, Brain, medicine.disease, Blotting, Northern, eye diseases, Mice, Mutant Strains, Intestines, ATP7A Gene, Disease Models, Animal, Liver, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Choroid plexus, Menkes disease, sense organs, Menkes' syndrome, Carrier Proteins, Sequence Analysis, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b68b456db602ad926518d2d57a650a36Test
https://pubmed.ncbi.nlm.nih.gov/9380433Test -
7
المؤلفون: Peter M. Royce, Beat Steinmann
المصدر: Pediatric research. 28(2)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Procollagen-Proline Dioxygenase, Connective tissue, Autopsy, Lysyl oxidase, macromolecular substances, Biology, Protein-Lysine 6-Oxidase, medicine.artery, medicine, Humans, Menkes Kinky Hair Syndrome, Aorta, Cells, Cultured, Skin, chemistry.chemical_classification, integumentary system, Brain Diseases, Metabolic, Infant, Fibroblasts, medicine.disease, Enzyme, medicine.anatomical_structure, chemistry, Connective Tissue, Pediatrics, Perinatology and Child Health, biology.protein, Menkes disease, Amino Acid Oxidoreductases, Collagen, Elastin, Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c174089631f37022c53c84e4b9de4c2eTest
https://pubmed.ncbi.nlm.nih.gov/1975662Test -
8
المؤلفون: D L Donaldson, John H. Holcombe, J D Fesmire, Owen M. Rennert, Wai-Yee Chan, D M Lee, Piers R. Blackett
المصدر: Pediatric Research. 18:864-870
مصطلحات موضوعية: Male, Apolipoprotein E, Hyperlipoproteinemias, medicine.medical_specialty, Very low-density lipoprotein, Apolipoprotein B, Lipoproteins, chemistry.chemical_compound, Apolipoproteins E, Internal medicine, medicine, Humans, Apolipoproteins C, Menkes Kinky Hair Syndrome, Triglycerides, Apolipoproteins B, Apolipoprotein C-III, biology, Brain Diseases, Metabolic, business.industry, Cholesterol, Ceruloplasmin, Infant, Glucose Tolerance Test, medicine.disease, Lipids, Lipoprotein Lipase, Apolipoproteins, Endocrinology, chemistry, Low-density lipoprotein, Pediatrics, Perinatology and Child Health, biology.protein, lipids (amino acids, peptides, and proteins), Menkes disease, Copper deficiency, business, Copper, Lipoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2db43ffa5ea62220dbe67e7cc4af94cTest
https://doi.org/10.1203/00006450-198409000-00012Test -
9
المؤلفون: Jl Nooijen, Cj Degroot, Cja Vandenhamer, M. F. Niermeijer, Lah Monnens, J. Willemse
المصدر: Pediatric Research. 15:284-289
مصطلحات موضوعية: Male, medicine.medical_specialty, Iron, chemistry.chemical_element, Prenatal diagnosis, Brain damage, Arsenic, Selenium, Pregnancy, Internal medicine, Humans, Medicine, Metallothionein, Tissue Distribution, Menkes Kinky Hair Syndrome, Edetic Acid, Molybdenum, Kidney, Fetus, Brain Diseases, Metabolic, business.industry, Infant, Cobalt, Mercury, medicine.disease, Copper, Trace Elements, Fetal Diseases, Zinc, medicine.anatomical_structure, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, Female, Menkes disease, medicine.symptom, business, Copper deficiency, Cadmium
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d79371a51eea39dffd05bc7466821211Test
https://doi.org/10.1203/00006450-198103000-00017Test -
10
المؤلفون: Cynthia O'Toole, Seymour Packman
المصدر: Pediatric Research. 18:1282-1286
مصطلحات موضوعية: Cell type, Time Factors, Mutant, chemistry.chemical_element, Zinc, Biology, Mice, Animals, Humans, Metallothionein, Inducer, Menkes Kinky Hair Syndrome, Cells, Cultured, Skin, Cadmium, Metabolism, Fibroblasts, Copper, Molecular biology, Mice, Mutant Strains, Biochemistry, chemistry, Metals, Pediatrics, Perinatology and Child Health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d9e2edbf4edd2300b4ee76c3bddc43Test
https://doi.org/10.1203/00006450-198412000-00011Test