المؤلفون: Wallace, Eric, Goker-Alpan, Ozlem, Wilcox, William, Holida, Myrl, Bernat, John, Longo, Nicola, Linhart, Aleš, Hughes, Derralynn, Hopkin, Robert, Tøndel, Camilla, Langeveld, Mirjam, Giraldo, Pilar, Pisani, Antonio, Germain, Dominique, Mehta, Ankit, Deegan, Patrick, Molnar, Maria, Ortiz, Damara, Jovanovic, Ana, Muriello, Michael, Vujkovac, Bojan, Nowak, Albina, Geberhiwot, Tarekegn, Kantola, Ilkka, Knoll, Jasmine, Waldek, Stephen, Nedd, Khan, Karaa, Amel, Brill-Almon, Einat, Alon, Sari, Chertkoff, Raul, Rocco, Rossana, Sakov, Anat, Warnock, David, Kimonis, Virginia, Barshop, Bruce

المصدر: Journal of Medical Genetics. 61(6)

مصطلحات موضوعية: Drug-Related Side Effects and Adverse Reactions, Fabry Disease, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, alpha-Galactosidase, Humans, Fabry Disease, Male, alpha-Galactosidase, Adult, Female, Middle Aged, Glomerular Filtration Rate, Enzyme Replacement Therapy, Isoenzymes, Recombinant Proteins, Adolescent, Young Adult, Treatment Outcome

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/183768dvTest
https://escholarship.org/content/qt183768dv/qt183768dv.pdfTest

المؤلفون: Pernice, Helena F.^1,2, O'Donnell, Luke F.¹, Rossor, Alexander M.¹, Laura, Matilde¹, Record, Christopher J.¹, Skorupinska, Mariola¹, Blake, Julian^1,3, Poh, Roy¹, Polke, James¹, Reilly, Mary M.¹ m.reilly@ucl.ac.uk

المصدر: Journal of the Peripheral Nervous System. Mar2024, Vol. 29 Issue 1, p111-115. 5p.

مصطلحات موضوعية: *X-linked genetic disorders, *GENETIC mutation, *NEUROPHYSIOLOGY, *SOMATOSENSORY evoked potentials, *GENETIC testing, *ESTERASES, *CARRIER proteins

المؤلفون: Wang, Lingyu¹ (AUTHOR), Zhang, Jie² (AUTHOR), Lu, Linna³ (AUTHOR), Ren, Juan³ (AUTHOR), Zhang, Yaofang³ (AUTHOR), Zhao, Lidong³ (AUTHOR), Shen, Wukang³ (AUTHOR), Hu, Xucheng³ (AUTHOR), Fang, Shuai³ (AUTHOR), Lu, Xiaomei³ (AUTHOR), Wang, Gang³ (AUTHOR), Yang, Linhua³ (AUTHOR)

المصدر: International Journal of Genomics. 2/19/2024, Vol. 2024, p1-8. 8p.

مصطلحات موضوعية: *WISKOTT-Aldrich syndrome, *X-linked genetic disorders, *THROMBOPOIETIN receptors, *RNA splicing, *SYMPTOMS, *GENE expression, *GENETIC mutation

المؤلفون: Gocuk, Sena A.^1,2,3 (AUTHOR), Edwards, Thomas L.^2,3 (AUTHOR), Jolly, Jasleen K.⁴ (AUTHOR), Ayton, Lauren N.^1,2,3 (AUTHOR) layton@unimelb.edu.au

المصدر: Clinical Genetics. Feb2024, Vol. 105 Issue 2, p150-158. 9p.

مصطلحات موضوعية: *X-linked genetic disorders, *GENE therapy, *GENETIC testing, *RETINAL diseases, *X chromosome, *GENERAL practitioners, *RETROLENTAL fibroplasia

المؤلفون: Dickey, Amy, Naik, Hetanshi, Keel, Siobán, Levy, Cynthia, Erwin, Angelika, Goddu, Robert, Hedstrom, Karli, Leaf, Rebecca, Kazamel, Mohamed, Mazepa, Marshall, Philpotts, Lisa, Quigley, John, Raef, Haya, Rudnick, Sean, Saberi, Behnam, Thapar, Manish, Ungar, Jonathan, Balwani, Manisha, Beaven, Simon, Wang, Bruce, Elmariah, Sammy

المصدر: Journal of American Academy of Dermatology. 89(6)

مصطلحات موضوعية: EPP, X-linked protoporphyria, XLP, consensus, cutaneous porphyria, diagnosis, erythropoietic protoporphyria, evidence-based, guidelines, management, photodermatoses, protoporphyria, Humans, Dermatitis, Phototoxic, Genetic Diseases, X-Linked, Liver Diseases, Protoporphyria, Erythropoietic, Practice Guidelines as Topic

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/19n5564fTest

المؤلفون: Xuan-Rong Koh, Danny¹ (AUTHOR), Zailani, Mohamed Afiq Hidayat² (AUTHOR), Raja Sabudin, Raja Zahratul Azma² (AUTHOR) zahratul@ppukm.ukm.edu.my, Muniandy, Sanggari¹ (AUTHOR), Muhamad Hata, Nur Awatif Akmal³ (AUTHOR), Mohd Noor, Siti Noor Baya³ (AUTHOR), Zakaria, Norhazilah³ (AUTHOR), Othman, Ainoon⁴ (AUTHOR), Ismail, Endom⁵ (AUTHOR)

المصدر: PLoS ONE. 12/12/2023, Vol. 18 Issue 12, p1-11. 11p.

مصطلحات موضوعية: *GLUCOSE-6-phosphate dehydrogenase, *X-linked genetic disorders, *GLUCOSE-6-phosphate dehydrogenase deficiency, *HETEROGENEITY, *INDIGENOUS peoples, *INDIGENOUS children

مصطلحات جغرافية: VIANGCHAN (Laos), COIMBRA (Portugal), MALAYSIA

المؤلفون: Liu, Tian¹, Weng, Haoyu², Ding, Wenhui², Chu, Xujun³, Li, Jianping^2,4 lijianping03455@pkufh.com

المصدر: Echocardiography. Nov2023, Vol. 40 Issue 11, p1276-1279. 4p.

مصطلحات موضوعية: *X-linked bulbo-spinal atrophy, *CARDIAC hypertrophy, *BRUGADA syndrome, *GENETIC testing, *MUSCLE weakness, *ELECTROCARDIOGRAPHY, *NEURODEGENERATION

المؤلفون: Mansouri, Nasrin¹, Darabi, Parichehr², Favaedi, Masoumeh³, Faizmahdavi, Hanieh¹, Nankali, Soheila¹, Assefi, Marjan⁴, Sharafshah, Alireza^2,5, Omarmeli, Vahid^2,6 omarmeli.vahid@yahoo.com

المصدر: Iranian Journal of Medical Sciences. Nov2023, Vol. 48 Issue 6, p606-611. 6p.

مصطلحات موضوعية: *X-linked genetic disorders, *SEQUENCE analysis, *DNA, *PRENATAL diagnosis, *FAMILIES, *GENETIC testing, *RETINITIS pigmentosa, *GENOMES, *GENOTYPES, *MEDICAL referrals, *IRANIANS, *VISION disorders, *POLYMERASE chain reaction, *GENETIC counseling, *AMINO acids, *MULTIPLE pregnancy

مصطلحات جغرافية: IRAN

المؤلفون: Sun, Xing-Hua¹ (AUTHOR), Liu, Qin¹ (AUTHOR), Wu, Sheng-Nan² (AUTHOR), Xu, Wu-Hen² (AUTHOR), Chen, Kai¹ (AUTHOR) shaojb@shildren.com.cn, Shao, Jing-Bo¹ (AUTHOR), Jiang, Hui¹ (AUTHOR)

المصدر: Annals of Hematology. Nov2023, Vol. 102 Issue 11, p3177-3184. 8p.

مصطلحات موضوعية: *X-linked genetic disorders, *HEMATOPOIETIC stem cell transplantation, *INTERSTITIAL cystitis, *ACUTE diseases, *GERM cells, *GENETIC mutation, *CYTOPENIA

المؤلفون: SMITH, SUSANNA J. susannajoysmith@gmail.com

المصدر: Health Affairs. Mar2023, Vol. 42 Issue 3, p443-447. 5p.

مصطلحات موضوعية: *DISCLOSURE, *ELECTRONIC health records, *INSURANCE, X-linked genetic disorders, ATTITUDES toward illness, GENETIC privacy, PATIENT-professional relations, HEALTH equity, GENETIC counseling, DISEASE risk factors