Zobrazeno 1 - 10
of 553
pro vyhledávání: '"Wuh‐Liang Hwu"'
Autor:
Wuh-Liang Hwu
Publikováno v:
Journal of the Formosan Medical Association, Vol 123, Iss 7, Pp 738-743 (2024)
Molecular diagnosis has undergone rapid and significant advancements in recent years. But because molecular diagnosis can be conducted independently of phenotype, it can engender ambiguity and potential misinterpretations in disease diagnosis. Fabry
Externí odkaz:
https://doaj.org/article/83191749997b463f9a60f2f60e39cbb6
Autor:
Sung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, Tung-Ming Chang, Sung-Pin Fan, Wan-De Huang, Yea-Huey Lin, Li-Kai Tsai, Yin-Hsiu Chien, Ming-Jen Lee, Wuh-Liang Hwu, Hsueh Wen Hsueh, Chih-Chao Yang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background To investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central nervous system. M
Externí odkaz:
https://doaj.org/article/0abe53ded10c4a81bffb009dfc2f1d65
Autor:
Huang-Yi Li, Wei-An Chen, Hung-Yi Lin, Chi-Wei Tsai, Yu-Ting Chiu, Wen-Yi Yun, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Wei-Chieh Cheng
Publikováno v:
Communications Chemistry, Vol 7, Iss 1, Pp 1-9 (2024)
Abstract Isofagomine (IFG) and its analogues possess promising glycosidase inhibitory activities. However, a flexible synthetic strategy toward both C5a-functionalized IFGs remains to be explored. Here we show a practical synthesis of C5a-S and R ami
Externí odkaz:
https://doaj.org/article/c0dd006ba2b34bf5a153907505e3a8f8
Autor:
Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E. Poulin, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei, Wuh-Liang Hwu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder of monoamine neurotransmitter synthesis that presents with a range of symptoms, including motor dysfunction and limited attainment of developmental motor milest
Externí odkaz:
https://doaj.org/article/72b3eebf67124630a01c372551173d71
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background Tetrahydrobiopterin (BH4) deficiency caused by 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that is one of the major causes of hyperphenylalaninemia in Taiwan. Methods In this study, we reviewed the cl
Externí odkaz:
https://doaj.org/article/d898d3715bb7457cb12fc0c21b3d1e54
Autor:
Hui-An Chen, Rai-Hseng Hsu, Ching-Ya Fang, Ankit K. Desai, Ni-Chung Lee, Wuh-Liang Hwu, Fuu-Jen Tsai, Priya S. Kishnani, Yin-Hsiu Chien
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionPompe disease, a lysosomal storage disorder, is characterized by acid α-glucosidase (GAA) deficiency and categorized into two main subtypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The primary treatment,
Externí odkaz:
https://doaj.org/article/d580f3c7d33d45768fcfbe1d68b78034
Autor:
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101048- (2024)
Background: Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. This study presents a 12-year experience, emphasizing disease diagnosis and screening performance. Method: NBS for galactosemia utilized dried bloo
Externí odkaz:
https://doaj.org/article/694029b172304ef986e2e08705986faa
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:
Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang, Ni-Chung Lee
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be classified into 3 subty
Externí odkaz:
https://doaj.org/article/5f203ea9af2e4503addb3c547dbeafed
Autor:
Wuh‐Liang Hwu, Rai‐Hseng Hsu, Mei‐Hsin Li, Hui‐Min Lee, Hui‐An Chen, Ni‐Chung Lee, Yin‐Hsiu Chien
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 387-392 (2023)
Abstract Aromatic l‐amino acid decarboxylase (AADC) deficiency is a rare inherited disorder that affects neurotransmitter biosynthesis. A DDC founder mutation c.714 + 4A > T (IVS6 + 4A > T) is prevalent in the Chinese population. This study investi
Externí odkaz:
https://doaj.org/article/ac450df762eb41cb9f86727b17781976