المؤلفون: Tong Yang, Jie Zhu, Yulai Kang, Chunhua Tang, Lili Zhang, Lu Guo

المصدر: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Neutral lipid storage disease with myopathy, Patatin-like phospholipase domain-containing 2, Cardiomyopathy, Muscular atrophy, Medium-chain fatty acid diet, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/98dfab2911b34641922371c998208021

المؤلفون: Yang, Tong, Zhu, Jie, Kang, Yulai, Tang, Chunhua, Zhang, Lili^{Aff2, IDs12891024077729_cor5}, Guo, Lu^{Aff2, IDs12891024077729_cor6}

المصدر: BMC Musculoskeletal Disorders. 25(1)

المؤلفون: Shuai Wang, Sha Wu, Daoquan Peng

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: neutral lipid storage disease, cardiomyopathy, patatin-like phospholipase domain-containing protein 2, adipose triglyceride lipase, autosomal recessive disease, case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1415156/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3e5ffaaa3bc24159bec0137b7656a965

المؤلفون: Landim, João Igor Dantas^{Aff1, IDs12883023031956_cor1}, Ribeiro, Ian Silva, Oliveira, Eduardo Braga, Freitas, Hermany Capistrano^{Aff2, Aff3}, Brito, Lara Albuquerque, Maia, Isaac Holanda Mendes, Távora, Daniel Gurgel Fernandes, Rodrigues, Cleonisio Leite^{Aff2, Aff3}

المصدر: BMC Neurology. 23(1)

المؤلفون: João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues

المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)

مصطلحات موضوعية: Neutral lipid storage disease with myopathy, Thomsen’s congenital myotonia, Myopathy, Myotonia, Jordan’s anomaly, PNPLA2, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/cf1b65548b164572ae2f36bb3f465b7e

المؤلفون: Wollina, Uwe^Aff3, Bagherani, Nooshin^{Aff4, Aff6, Aff7}, Smoller, Bruce^Aff5

المساهمون: Smoller, Bruce, editor^Aff1, Bagherani, Nooshin, editor^Aff2

المصدر: Atlas of Dermatology, Dermatopathology and Venereology : Cutaneous Anatomy, Biology and Inherited Disorders and General Dermatologic Concepts. :547-584

المؤلفون: Souissi, Asmahane^{Aff4, Aff5, Aff6}, Toukabri, Nourchène^{Aff7, Aff3}, Chelly, Ines^{Aff8, Aff9, Aff10}, Laaroussi, Nadia^Aff11, Charfeddine, Cherine^Aff12, Hafsi, Wissem^{Aff14, Aff15}, Abdelhak, Sonia^Aff11, Boubaker, Samir^{Aff16, Aff13}, Mokni, Mourad^Aff6

المساهمون: Smoller, Bruce, editor^Aff1, Bagherani, Nooshin, editor^Aff2

المصدر: Atlas of Dermatology, Dermatopathology and Venereology : Cutaneous Anatomy, Biology and Inherited Disorders and General Dermatologic Concepts. :517-546

المؤلفون: Ying XING, Chengwei PU, Ke SHANG, Chenxue QU

المصدر: Zhongguo quanke yixue, Vol 25, Iss 24, Pp 3065-3069 (2022)

مصطلحات موضوعية: lipidoses, neutral lipid storage disease with myopathy, toxic changes of neutrophils, neutrophil alkaline phosphatase staining, Medicine

وصف الملف: electronic resource

Relation: https://www.chinagp.net/fileup/1007-9572/PDF/zx20220185.pdf; https://doaj.org/toc/1007-9572

URL الوصول: https://doaj.org/article/23286c91e8b9431097073d73c63c1fa6

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المؤلفون: Filiz Topaloglu Demir, Baran Cayhan, Cagla Karaoglan, Zafer Turkoglu, Nesimi Buyukbabani, Mesut Ayer, Bugrahan Duz, Bulent Uyanık

المصدر: Indian Journal of Dermatology, Vol 67, Iss 5, Pp 579-582 (2022)

مصطلحات موضوعية: chanarin–dorfman syndrome, congenital ichthyosis, genodermatoses, neutral lipid storage disease with ichthyosis, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=5;spage=579;epage=582;aulast=Demir; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611

URL الوصول: https://doaj.org/article/4bddeaeb96ac406e8c63378ff3bcb024