Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Ju, Melody"'
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
Abstract Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal hydrolases. Most LSDs are inherited in an autosomal or X-linked recessive manner. As LSDs are rare, their true incidence
Externí odkaz:
https://doaj.org/article/959b97d6c77349b9980700f72092297e
Autor:
Tsai, Meng-Ju Melody, Tsai, Wen-Yu, Lee, Cheng-Ting, Liu, Shih-Yao, Chien, Yin-Hsiu, Tung, Yi-Ching
Publikováno v:
In Journal of the Formosan Medical Association February 2023 122(2):106-112
Autor:
Chia-Mei Chu, Hsin-Hui Yu, Tsai-Ling Kao, Yi-Hsuan Chen, Hsuan-Hsuan Lu, En-Ting Wu, Yun-Li Yang, Chin-Hsien Lin, Shin-Yu Lin, Meng-Ju Melody Tsai, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Pin Chen, Ni-Chung Lee, Chi-Kang Tseng
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous m
Externí odkaz:
https://doaj.org/article/9aecb9637b0d4a5bbbfe6204b5fa8c01
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionThe life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patient
Externí odkaz:
https://doaj.org/article/425884d0a2784925a59e4164294d3bd6
Publikováno v:
Journal of the Formosan Medical Association, Vol 121, Iss 4, Pp 856-860 (2022)
Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen–de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. It is characterized
Externí odkaz:
https://doaj.org/article/46bbd1cb3e0349b38951133714426af3
Autor:
Marar, Mallika, Gabriel, Peter, Hwang, Wei-Ting, Owen, Daniel R., Ju, Melody, Simone, Charles B., II, Christodouleas, John, Vapiwala, Neha, Berman, Abigail T.
Publikováno v:
In International Journal of Radiation Oncology, Biology, Physics 15 July 2018 101(4):935-944
Autor:
Meng-Ju Melody Tsai, Wen-Yu Tsai, Cheng-Ting Lee, Shih-Yao Liu, Yin-Hsiu Chien, Yi-Ching Tung
Publikováno v:
Journal of the Formosan Medical Association. 122:106-112
Congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency (21-OHD) is a disorder of adrenal steroidogenesis. Achievement of optimal growth by such patients is challenging. We evaluated the adult height of Taiwanese children with 21-OHD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c99e7b4621e602ec623d26e732dab4f
https://doi.org/10.1016/j.jfma.2022.09.007
https://doi.org/10.1016/j.jfma.2022.09.007
Akademický článek
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Akademický článek
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Autor:
Ju, Melody ∗, Berman, Abigail T., Hwang, Wei-Ting, LaMarra, Denise, Baffic, Cordelia, Suneja, Gita, Vapiwala, Neha
Publikováno v:
In International Journal of Radiation Oncology, Biology, Physics 1 April 2014 88(5):1129-1135