المؤلفون: Ekkarit, Panichsillaphakit, Tanisa, Kwanbunbumpen, Sirinuch, Chomtho, Chonnikant, Visuthranukul

المصدر: BMJ case reports. 15(4)

مصطلحات موضوعية: Adenosine Triphosphatases, Male, Epilepsy, Asia, Eastern, Ceruloplasmin, Infant, Peptide Fragments, Copper-Transporting ATPases, Mutation, Organometallic Compounds, Humans, Histidine, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3d0bdd0401714fbfe6de95e76632f371Test
https://pubmed.ncbi.nlm.nih.gov/35393273Test

المؤلفون: Süleyman Hilmi Sevinç, Sedat Işıkay

المصدر: The Turkish journal of pediatrics. 64(6)

مصطلحات موضوعية: Giant Axonal Neuropathy, Primary Immunodeficiency Diseases, Pediatrics, Perinatology and Child Health, Humans, Nervous System Diseases, Child, Menkes Kinky Hair Syndrome, Hair Diseases, Amino Acid Metabolism, Inborn Errors, Hair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e3cec8c1bd4f4bf177f870966aa8927Test
https://pubmed.ncbi.nlm.nih.gov/36583891Test

المؤلفون: Margaret J. Means, Francis J. R. Santos, Susan T. Sotardi, Lauren A. Beslow

المصدر: Neuropediatrics. 53(3)

مصطلحات موضوعية: Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), General Medicine, Menkes Kinky Hair Syndrome, Cation Transport Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d4654392e7b99b31de1520b6926f4f5Test
https://pubmed.ncbi.nlm.nih.gov/35122229Test

المؤلفون: Kin Fen Kevin Fung, Yin Yee Kwong, Wing Sze Mak, Yee Ling Elaine Kan

المصدر: Radiology. 296:463-467

مصطلحات موضوعية: Male, Percentile, Pediatrics, medicine.medical_specialty, Ribs, Physical examination, Pectus excavatum, medicine, Deformity, Humans, Radiology, Nuclear Medicine and imaging, Menkes Kinky Hair Syndrome, Full Term, medicine.diagnostic_test, business.industry, Skull, Brain, Infant, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Radiography, Pneumonia, medicine.anatomical_structure, Copper-Transporting ATPases, medicine.symptom, business, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efeed5f351aaee2ac37422c4478f95fdTest
https://doi.org/10.1148/radiol.2020182237Test

المؤلفون: Alessandra Ferlini, Francesca Gualandi, Mert Karakaya, Rocco Liguori, Stefano Squarzoni, Fernanda Fortunato, V. Simioni, Marcella Neri, Elisabetta Sette, Domenico De Grandis, Alex Incensi, Vincent Timmerman, Markus Storbeck, Rita Selvatici, Valeria Tugnoli, C. Scotton, Brunhilde Wirth, Stefania Bigoni, Vincenzo Donadio

المساهمون: Gualandi F., Sette E., Fortunato F., Bigoni S., De Grandis D., Scotton C., Selvatici R., Neri M., Incensi A., Liguori R., Storbeck M., Karakaya M., Simioni V., Squarzoni S., Timmerman V., Wirth B., Donadio V., Tugnoli V., Ferlini A.

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Retrograde ejaculation, Pathology, medicine.medical_specialty, Peripheral neuropathy, ATP7A, Occipital horn syndrome, Socio-culturale, medicine.disease_cause, Cutis Laxa, Muscular Atrophy, Spinal, Autonomic neuropathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, ATP7A mutation, Motor Neuron Disease, Menkes Kinky Hair Syndrome, Genetic Association Studies, Genetics (clinical), Aged, Adenosine Triphosphatases, Mutation, business.industry, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Ehlers-Danlos Syndrome, Menkes disease, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a3fd435375c5c8fdc015839378ff6bTest
https://doi.org/10.1016/j.nmd.2019.08.008Test

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: Viktor J Romero-Diaz, Margarita L Martinez-Fierro, Edith Cardenas-Vargas, Griselda A Cabral-Pacheco, Iram P. Rodriguez-Sanchez, Marisol Ibarra-Ramírez, Idalia Garza-Veloz, Joke Beuten, Jesus Acuña-Quiñones, Vania Z. Zuñiga-Ramirez, Samantha E. Sanchez-Guerrero, Laura Elia Martínez-de-Villarreal, Ivan Delgado-Enciso, Laura Villarreal-Martínez

المصدر: Genes, Vol 12, Iss 744, p 744 (2021)
Genes
Volume 12
Issue 5

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Proteomics, Adolescent, Proteome, ATP7A, Down-Regulation, rare disease, Context (language use), QH426-470, Article, 03 medical and health sciences, Immune System Phenomena, Young Adult, 0302 clinical medicine, Cell Movement, medicine, Genetics, Humans, Menkes Kinky Hair Syndrome, Genetics (clinical), Exome sequencing, biology, Infant, Menkes disease, medicine.disease, hypopigmentary disorder, Blood proteins, Molecular biology, Up-Regulation, ATP7A Gene, silvery hair syndrome, 030104 developmental biology, Copper-Transporting ATPases, Mutation, biology.protein, Female, Ceruloplasmin, exome sequencing, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669c93b59010428d21281009bf99c3fbTest
https://www.mdpi.com/2073-4425/12/5/744Test

المؤلفون: Mahmoud Reza Ashrafi, Dorsa Ghasemi, Moeinadin Safavi

المصدر: Archives of Iranian medicine. 24(12)

مصطلحات موضوعية: Humans, General Medicine, Menkes Kinky Hair Syndrome, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575ed7bc366cbc61a983dbd85e7fa4e0Test
https://pubmed.ncbi.nlm.nih.gov/35014241Test

المؤلفون: Xiaoli, Li, Tianming, Jia, Xiaoli, Zhang, Ling, Gan, Qiliang, Guo, Xiao, Li

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(2)

مصطلحات موضوعية: Family Health, Copper-Transporting ATPases, Case-Control Studies, Mutation, High-Throughput Nucleotide Sequencing, Humans, Exons, Child, Menkes Kinky Hair Syndrome, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ac12429697c860026cc8117075949276Test
https://pubmed.ncbi.nlm.nih.gov/33565059Test

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