المؤلفون: Maya Weitzen, Marcus DaSilva Goncalves, Shaheer Khan, Alexander Barbaro, Richard Carvajal, Keyur Thakar

المصدر: Current Problems in Cancer: Case Reports, Vol 16, Iss , Pp 100332- (2024)

مصطلحات موضوعية: Immune checkpoint inhibitor, Pembrolizumab, Advanced melanoma, Acquired generalized lipodystrophy, Immunotoxicity, Immunotherapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666621924000541; https://doaj.org/toc/2666-6219

URL الوصول: https://doaj.org/article/511f0828b6b84020872a51113dc74de4

المؤلفون: Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Congenital generalized lipodystrophy, HbA1c, Generalized lipodystrophy, Metabolic disease, Organ system abnormalities, Middle East, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/75ef611592ac46869fbc423ec526ad5f

المؤلفون: Nivedita Patni, Craig Chard, David Araújo-Vilar, Helen Phillips, David A. Magee, Baris Akinci

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Diagnosis, Generalized lipodystrophy, Metreleptin, Partial lipodystrophy, Patient journey, Physician perspective, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e797b6f4aab84c6e8ee22d247b480f80

المؤلفون: Takayoshi Sasako, Ken Suzuki, Sara Odawara, Hirotsugu Suwanai, Naoko Akuta, Naoto Kubota, Kohjiro Ueki, Takashi Kadowaki, Toshimasa Yamauchi

المصدر: Journal of Diabetes Investigation, Vol 15, Iss 6, Pp 782-785 (2024)

مصطلحات موضوعية: generalized lipodystrophy, protein catabolism, steroid myopathy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2040-1116; https://doaj.org/toc/2040-1124

URL الوصول: https://doaj.org/article/87fa652789394e52b655150cfa585357

المؤلفون: Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Ozbek

المصدر: JCRPE, Vol 15, Iss 3, Pp 329-333 (2023)

مصطلحات موضوعية: congenital generalized lipodystrophy, bscl2 gene, metreleptin treatment, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-76376&look4=; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/b651e69acbc8494fac0c0d6b3485c796

المؤلفون: SONG Zongxian, DONG Zhiya, LU Ziwen, LI Yanxiao, CHEN Ye

المصدر: Zhenduanxue lilun yu shijian, Vol 21, Iss 05, Pp 592-597 (2022)

مصطلحات موضوعية: acanthosis nigricans, congenital generalized lipodystrophy type 1, agpat2 gene, Medicine

وصف الملف: electronic resource

Relation: https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1674993682691-1958282921.pdf; https://doaj.org/toc/1671-2870

URL الوصول: https://doaj.org/article/98de95d9da9143a9a2f49f2b23b9675a

المؤلفون: Susan A. Martin, Robert J. Sanchez, Oyebimpe Olayinka-Amao, Charles Harris, Sheri Fehnel

المصدر: Journal of Patient-Reported Outcomes, Vol 6, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Hunger, Leptin, Generalized lipodystrophy, Partial lipodystrophy, Patient-reported outcomes, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2509-8020

URL الوصول: https://doaj.org/article/681cefbd17674a17bef1b2e7abf3acc7

المؤلفون: Yuan Yang, Li Ma, Jingjing Sun, Xiaohui Gong, Cheng Cai, Wenchao Hong

المصدر: BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Congenital generalized lipodystrophy, Neonate, Metabolic disorders, BSCL2, Case report, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6823

URL الوصول: https://doaj.org/article/18d3be9e8349476c87dcc53ad1a1a932

المؤلفون: Jie Zhou, Hanmin Liu, Jiao Chen, Xiaolan He

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: congenital generalized lipodystrophy, cardiac involvement, echocardiography, infant, systolic dysfunction, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1087833/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/8a17c70405ec45ac90ae9492dba5380f

المؤلفون: Takayoshi Sasako, Hiroko Kadowaki, Takayuki Fujiwara, Satoshi Kodera, Issei Komuro, Takashi Kadowaki, Toshimasa Yamauchi

المصدر: Journal of Diabetes Investigation, Vol 13, Iss 9, Pp 1636-1638 (2022)

مصطلحات موضوعية: Adiponectin, Generalized lipodystrophy‐associated progeroid syndrome, Leptin replacement therapy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2040-1116; https://doaj.org/toc/2040-1124

URL الوصول: https://doaj.org/article/08c8b7181e7c445f98c5980ad026e1e6

المؤلفون: Özbek, Mehmet Nuri, Yildirim Simsir, Ilgin, Tuysuz, Beyhan, Tanrikulu, Seher, Celik Guler, Merve, Akinci, Baris

مصطلحات موضوعية: generalized lipodystrophy, metabolic disease, mortality, organ complications

وصف الملف: application/pdf

Relation: Diabetes, Obesity and Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Yildirim Simsir, I., Tuysuz, B., Ozbek, M. N., Tanrikulu, S., Celik Guler, M., Karhan, A. N., . & Akinci, B. (2023). Clinical features of generalized lipodystrophy in Turkey: A cohort analysis. Diabetes, Obesity and Metabolism, 25(7), 1950-1963.; https://doi.org/10.1111/dom.15061; https://www.scopus.com/record/display.uri?eid=2-s2.0-85152786989&origin=resultslist&sort=plf-f&src=s&sid=e6ffd6956e9981255ba20ae83e3a4e9a&sot=b&sdt=b&s=DOI%2810.1111%2Fdom.15061%29&sl=22&sessionSearchId=e6ffd6956e9981255ba20ae83e3a4e9a; https://pubmed.ncbi.nlm.nih.gov/36946378/#full-view-affiliation-1; https://hdl.handle.net/20.500.12514/3546; 25; 1950; 1963

الاتاحة: https://hdl.handle.net/20.500.12514/3546
https://doi.org/10.1111/dom.15061
https://www.scopus.com/record/display.uri?eid=2-s2.0-85152786989&origin=resultslist&sort=plf-f&src=s&sid=e6ffd6956e9981255ba20ae83e3a4e9a&sot=b&sdt=b&s=DOI%2810.1111%2Fdom.15061%29&sl=22&sessionSearchId=e6ffd6956e9981255ba20ae83e3a4e9a
https://pubmed.ncbi.nlm.nih.gov/36946378/#full-view-affiliation-1

المؤلفون: Bispo, Mônica Bento, Freitas, Ana Carolina Carli de

المصدر: Research, Society and Development; Vol. 12 No. 2; e21812240288 ; Research, Society and Development; Vol. 12 Núm. 2; e21812240288 ; Research, Society and Development; v. 12 n. 2; e21812240288 ; 2525-3409

مصطلحات موضوعية: Lipodistrofia, Lipodistrofia Generalizada Congênita, Síndrome metabólica, Lipodystrophy, Congenital Generalized Lipodystrophy, Metabolic syndrome, Lipodistrofia Generalizada Congénita, Síndrome metabólico

وصف الملف: application/pdf

Relation: https://rsdjournal.org/index.php/rsd/article/view/40288/32893; https://rsdjournal.org/index.php/rsd/article/view/40288

الاتاحة: https://rsdjournal.org/index.php/rsd/article/view/40288
https://doi.org/10.33448/rsd-v12i2.40288

المؤلفون: DING Juan,MA Ming-sheng,QIU Zheng-qing

المصدر: Jichu yixue yu linchuang, Vol 41, Iss 9, Pp 1333-1337 (2021)

مصطلحات موضوعية: congenital generalized lipodystrophy, caused by bscl2, sepin, epilepsy, Medicine

وصف الملف: electronic resource

Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a201432.pdf; https://doaj.org/toc/1001-6325

URL الوصول: https://doaj.org/article/eb848b5bc2fb404899a0acdfed110862

المؤلفون: Mayara Ponte Madeira, Erika Bastos Lima Freire, Virginia Oliveira Fernandes, Grayce Ellen da Cruz Paiva Lima, Ivana da Ponte Melo, Ana Paula Dias Rangel Montenegro, José Ednésio da Cruz Freire, Caroline de Fátima Aquino Moreira-Nunes, Raquel Carvalho Montenegro, Jeová Keny Baima Colares, Renan Magalhães Montenegro Junior, Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO)

المصدر: Diabetology & Metabolic Syndrome, Vol 13, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: SARS-COV-2, COVID-19, Congenital generalized lipodystrophy, Lipodystrophy, Diabetes, Insulin resistance, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1758-5996

URL الوصول: https://doaj.org/article/ab762307fc244b7594e31f0b7309d5dd

المؤلفون: Costa-Riquetto, Aline D., Santana, Lucas S., Caetano, Lílian A., Lerário, Antônio M., Correia-Deur, Joya E. M., Bertola, Débora R., Kim, Chong A., Nery, Márcia, Jorge, Alexander A. L., Teles, Milena G.

المصدر: Archives of Endocrinology and Metabolism. October 2020 64(5)

مصطلحات موضوعية: Congenital generalized lipodystrophy, Berardinelli-Seip syndrome, massively parallel sequencing, deep sequencing

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000500559

المؤلفون: Stefania Pedicelli, Luca de Palma, Caterina Pelosini, Marco Cappa

المصدر: Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Case report, Congenital generalized lipodystrophy type 2, Metreleptin, Neurological impairment, Progressive myoclonic epilepsy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13052-020-00916-2; https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/61891b24bb5e4741b44dc0a5b8b590d4

المؤلفون: Aline D. Costa-Riquetto, Lucas S. Santana, Lílian A. Caetano, Antônio M. Lerário, Joya E. M. Correia-Deur, Débora R. Bertola, Chong A. Kim, Márcia Nery, Alexander A. L. Jorge, Milena G. Teles

المصدر: Archives of Endocrinology and Metabolism, Vol 64, Iss 5, Pp 559-566 (2020)

مصطلحات موضوعية: Congenital generalized lipodystrophy, Berardinelli-Seip syndrome, massively parallel sequencing, deep sequencing, Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000500559&tlng=en; https://doaj.org/toc/2359-4292

URL الوصول: https://doaj.org/article/f40995cb8582482dbd7b0a71bbb797e7

المؤلفون: Utku Erdem Soyaltin, Ilgin Yildirim Simsir, Baris Akinci, Canan Altay, Suleyman Cem Adiyaman, Kristen Lee, Huseyin Onay, Elif Arioglu Oral

المصدر: Clinical Diabetes and Endocrinology, Vol 6, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: LMNA, Lamin A, Generalized lipodystrophy, Homozygous, Partial lipodystrophy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40842-020-00100-9; https://doaj.org/toc/2055-8260

URL الوصول: https://doaj.org/article/c3c96ebba42c468a8310e376132b3b67

المؤلفون: Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov

المصدر: Clinical Diabetes and Endocrinology, Vol 6, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Congenital generalized lipodystrophy type 4, CAVIN1, Insulin dependent diabetes mellitus, Vitamin D deficiency, Bilateral cataracts, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40842-020-00095-3; https://doaj.org/toc/2055-8260

URL الوصول: https://doaj.org/article/503cf2a8c1b04e129b24cb1f49e9658b

المؤلفون: Renan Magalhães Montenegro Junior, Grayce Ellen da Cruz Paiva Lima, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourão Melo Ponte, Lívia Vasconcelos Martins, Daniel Pascoalino Pinheiro, Maria Elisabete Amaral de Moraes, Manoel Odorico de Moraes Filho, Catarina Brasil d’Alva

المصدر: Diabetology & Metabolic Syndrome, Vol 12, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Congenital generalized lipodystrophy, AGPAT2, Cardiovascular disease, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13098-020-00538-y; https://doaj.org/toc/1758-5996

URL الوصول: https://doaj.org/article/cfeb4e703baa435a877312f57a1db0c8