Author: "Hwu, Wuh-Liang" - OpacWWW

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Title:: Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
Authors:: Chen, Hui-An
Hsu, Rai-Hseng
Chen, Li-Chu
Lee, Ni-Chung
Chiu, Pao-Chin
Hwu, Wuh-Liang
Chien, Yin-Hsiu; Show more
Source:: In Molecular Genetics and Metabolism Reports March 2024 38

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Title:: Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic l-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study
Authors:: Simons, Claire L.
Hwu, Wuh-Liang
Zhang, RongrongAff3, IDs12325023026896_cor3
Simons, Martijn J. H. G.
Bergkvist, Mats
Bennison, Craig; Show more
Source:: Advances in Therapy. :1-16

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Title:: Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Authors:: Hsu, Rai-HsengAff1, Aff2, Aff3
Lee, Ni-ChungAff1, Aff2, Aff3
Chen, Hui-AnAff1, Aff2
Hwu, Wuh-LiangAff1, Aff2, Aff3, Aff4
Chang, Tung-MingAff5, Aff6
Chien, Yin-HsiuAff1, Aff2, Aff3, IDs13023023029634_cor6; Show more
Source:: Orphanet Journal of Rare Diseases. 18(1)

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Title:: Curated incidence of lysosomal storage diseases from the Taiwan Biobank
Authors:: Tsai, Meng-Ju MelodyAff1, Aff2
Hung, Miao-Zi
Lin, Yi-Lin
Lee, Ni-ChungAff1, Aff3
Chien, Yin-HsiuAff1, Aff3
Hwu, Wuh-LiangAff1, Aff3, Aff4, IDs4152502300372x_cor6; Show more
Source:: npj Genomic Medicine. 8(1)

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Title:: Changing clinical manifestations of Gaucher disease in Taiwan
Authors:: Lu, Wen-Li
Chien, Yin-HsiuAff2, Aff3
Tsai, Fuu-JenAff4, Aff5
Hwu, Wuh-LiangAff2, Aff3, Aff11
Chou, Yen-Yin
Chu, Shao-YinAff7, Aff8
Li, Meng-Ju
Lee, An-Ju
Liao, Chao-Chuan
Wang, Chung-HsingAff4, Aff10, IDs1302302302895z_cor10
Lee, Ni-ChungAff2, Aff3, IDs1302302302895z_cor11; Show more
Source:: Orphanet Journal of Rare Diseases. 18(1)

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Title:: Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases
Authors:: Chen, Chi-Bo
Hsu, Jacob Shujui
Chen, Pei-Lung
Wu, Jia-Feng
Li, Huei-Ying
Liou, Bang-Yu
Chang, Mei-Hwei
Ni, Yen-Hsuan
Hwu, Wuh-Liang
Chien, Yin-Hsiu
Chou, Yen-Yin
Yang, Yao-Jong
Lee, Ni-Chung
Chen, Huey-Ling; Show more
Source:: In The Journal of Pediatrics July 2023 258

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Title:: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Authors:: Himmelreich, Nastassja
Bertoldi, Mariarita
Alfadhel, Majid
Alghamdi, Malak Ali
Anikster, Yair
Bao, Xinhua
Bashiri, Fahad A.
Zeev, Bruria Ben
Bisello, Giovanni
Ceylan, Ahmet Cevdet
Chien, Yin-Hsiu
Choy, Yew Sing
Elsea, Sarah H.
Flint, Lisa
García-Cazorla, Àngels
Gijavanekar, Charul
Gümüş, Emel Yılmaz
Hamad, Muddathir H.
Hişmi, Burcu
Honzik, Tomas
Hübschmann, Oya Kuseyri
Hwu, Wuh-Liang
Ibáñez-Micó, Salvador
Jeltsch, Kathrin
Juliá-Palacios, Natalia
Kasapkara, Çiğdem Seher
Kurian, Manju A.
Kusmierska, Katarzyna
Liu, Ning
Ngu, Lock Hock
Odom, John D.
Ong, Winnie Peitee
Opladen, Thomas
Oppeboen, Mari
Pearl, Phillip L.
Pérez, Belén
Pons, Roser
Rygiel, Agnieszka Magdalena
Shien, Tan Ee
Spaull, Robert
Sykut-Cegielska, Jolanta
Tabarki, Brahim
Tangeraas, Trine
Thöny, Beat
Wassenberg, Tessa
Wen, Yongxin
Yakob, Yusnita
Yin, Jasmine Goh Chew
Zeman, Jiri
Blau, Nenad; Show more
Source:: In Molecular Genetics and Metabolism July 2023 139(3)

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Title:: Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C
Authors:: Chen, Tsu-I
Hsu, Pei-Chun
Lee, Ni-Chung
Liu, Yu-Han
Wang, Hao-Chun
Lu, Yen-Hsu
Chien, Yin-Hsiu
Hwu, Wuh-Liang; Show more
Source:: In Heliyon July 2023 9(7)

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Title:: An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolism
Authors:: Wang, San-yuan
Weng, Te-I
Chen, Ju-Yu
Lee, Ni-Chung
Lee, Kun-Chen
Lai, Mei-Ling
Chien, Yin-Hsiu
Hwu, Wuh-Liang
Chen, Guan-Yuan; Show more
Source:: In Clinica Chimica Acta 1 February 2023 540

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Title:: Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians
Authors:: Chen, Wei-Hsin
Hsieh, Sheau-Ling
Hsu, Kai-Ping
Chen, Han-Ping
Su, Xing-Yu
Tseng, Yi-Ju
Chien, Yin-Hsiu
Hwu, Wuh-Liang
Lai, Feipei; Show more
Subject Terms:: Computer applications to medicine. Medical informatics
R858-859.7
Public aspects of medicine
RA1-1270
Source:: Journal of Medical Internet Research, Vol 15, Iss 5, p e98 (2013)
File Description:: electronic resource
Relation:: http://www.jmir.org/2013/5/e98/; https://doaj.org/toc/1438-8871
Access URL:: https://doaj.org/article/6ab3c8af36e44af38e64b4ea91ea95e3 Link opens in a new window

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Title:: Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease
Authors:: Li, Huang-Yi
Lee, Ni-Chung
Chiu, Yu-Ting
Chang, Yu-Wen
Lin, Chu-Chung
Chou, Cheng-Li
Chien, Yin-Hsiu
Hwu, Wuh-Liang
Cheng, Wei-Chieh; Show more
Source:: In Bioorganic & Medicinal Chemistry 15 January 2023 78

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Title:: Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency
Authors:: Chen, Pin-Wen
Hwu, Wuh-Liang
Lee, Ni-Chung
Chien, Yin-Hsiu; Show more
Source:: In Molecular Genetics and Metabolism August 2023

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Title:: Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease
Authors:: Hwu, Wuh-Liang; Show more
Source:: In Journal of the Formosan Medical Association October 2023

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Title:: The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis
Authors:: Hsueh, Hsueh-Wen
Weng, Wen-Chin
Fan, Pi-Chuan
Chien, Yin-Hsiu
Yang, Feng-Jung
Lee, Wang-Tso
Lin, Ru-Jen
Hwu, Wuh-Liang
Yang, Chih-Chao
Lee, Ni-Chung; Show more
Source:: In Journal of the Formosan Medical Association December 2022 121(12):2574-2583

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Go to position: 15.

Title:: Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
Authors:: Tai, Chun-Hwei
Lee, Ni-Chung
Chien, Yin-Hsiu
Byrne, Barry J.
Muramatsu, Shin-Ichi
Tseng, Sheng-Hong
Hwu, Wuh-Liang; Show more
Source:: In Molecular Therapy 2 February 2022 30(2):509-518

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Go to position: 16.

Title:: The modern face of newborn screening
Authors:: Chien, Yin-Hsiu
Hwu, Wuh-Liang; Show more
Source:: In Pediatrics & Neonatology November 2022

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Title:: Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
Authors:: Cho, Chih-Yi
Tsai, Wen-Yu
Lee, Cheng-Ting
Liu, Shih-Yao
Huang, Shu-Yuan
Chien, Yin-Hsiu
Hwu, Wuh-Liang
Lee, Ni-Chung
Tung, Yi-Ching; Show more
Source:: In Journal of the Formosan Medical Association January 2022 121(1) Part 1:218-226

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Go to position: 18.

Title:: Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
Authors:: Chien, Yin-HsiuAff1, Aff2, Aff3, IDs10072022061282_cor1
Lee, Ni-ChungAff1, Aff2, Aff3
Weng, Wen-ChinAff2, Aff3
Chen, Li-Chu
Huang, Yu-Hsuan
Wu, Chao-Szu
Hwu, Wuh-LiangAff1, Aff2, Aff3; Show more
Source:: Neurological Sciences. 43(7):4563-4566

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Title:: A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
Authors:: Chu, Chia-Mei
Yu, Hsin-Hui
Kao, Tsai-Ling
Chen, Yi-Hsuan
Lu, Hsuan-Hsuan
Wu, En-Ting
Yang, Yun-Li
Lin, Chin-Hsien
Lin, Shin-Yu
Tsai, Meng-Ju Melody
Chien, Yin-HsiuAff2, Aff6
Hwu, Wuh-LiangAff2, Aff6
Chen, Wen-Pin
Lee, Ni-ChungAff2, Aff6, IDs41525022003358_cor14
Tseng, Chi-KangAff1, IDs41525022003358_cor15; Show more
Source:: npj Genomic Medicine. 7(1)

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Title:: Comparison of GATK and DeepVariant by trio sequencing
Authors:: Lin, Yi-Lin
Chang, Pi-Chuan
Hsu, Ching
Hung, Miao-Zi
Chien, Yin-HsiuAff1, Aff4
Hwu, Wuh-LiangAff1, Aff4
Lai, FeiPei
Lee, Ni-ChungAff1, Aff4, IDs41598022058334_cor8; Show more
Source:: Scientific Reports. 12(1)

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