第 1 到 21 筆結果,共 21 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2023 | Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency | Hsu, Rai-Hseng; NI-CHUNG LEE ; HUI-AN CHEN ; WUH-LIANG HWU ; Chang, Tung-Ming; YIN-HSIU CHIEN | Orphanet journal of rare diseases | |||
2 | 2022 | Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review | Tsai, Meng-Ju Melody; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; YI-CHING TUNG | Journal of the Formosan Medical Association = Taiwan yi zhi | 2 | 2 | |
3 | 2022 | Reduced Immunogenicity of Intraparenchymal Delivery of Adeno-Associated Virus Serotype 2 Vectors: Brief Overview | WUH-LIANG HWU ; Muramatsu, Shin-Ichi; Gidoni-Ben-Zeev, Bruria | Current gene therapy | 2 | 2 | |
4 | 2021 | Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma | Ramaswami U.; Mengel E.; Berrah A.; AlSayed M.; Broomfield A.; Donald A.; seif El Dein H.M.; Freisens S.; WUH-LIANG HWU ; Peterschmitt M.J.; Yoo H.-W.; Abdelwahab M. | Molecular Genetics and Metabolism | 14 | 9 | |
5 | 2019 | Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) | Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU ; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M. | Molecular Genetics and Metabolism | 48 | 41 | |
6 | 2019 | A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 13 | 9 | |
7 | 2018 | Management of Leigh syndrome: Current status and new insights | Chen L.; Cui Y.; Jiang D.; Ma C.Y.; Tse H.-F.; WUH-LIANG HWU ; Lian Q. | Clinical Genetics | 16 | 12 | |
8 | 2017 | A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Neurology and Therapy | 17 | 0 | |
9 | 2017 | Introduction to the newborn screening, diagnosis, and treatment for pompe disease guidance supplement | Kishnani P.S.; WUH-LIANG HWU | Pediatrics | 10 | 6 | |
10 | 2017 | Gene therapy with modified U1 small nuclear RNA | WUH-LIANG HWU ; Lee Y.-M.; NI-CHUNG LEE | Expert Review of Endocrinology and Metabolism | 3 | 0 | |
11 | 2016 | Advances in newborn screening for Pompe disease and resulting clinical outcomes | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Expert Opinion on Orphan Drugs | 0 | 0 | |
12 | 2016 | Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; SHAU-PING LIN | Orphanet Journal of Rare Diseases | 22 | 24 | |
13 | 2014 | Parental discussion of G6PD deficiency and child health: Implications for clinical practice | Guan Y.; Roter D.L.; Huang A.; Erby L.A.H.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Archives of Disease in Childhood | 1 | 1 | |
14 | 2013 | Pompe disease: Early diagnosis and early treatment make a difference | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 129 | 107 | |
15 | 2010 | Newborn screening for neuropathic lysosomal storage disorders | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Journal of Inherited Metabolic Disease | 21 | 19 | |
16 | 2008 | Myopathy in Gaucher disease | LI-KAI TSAI ; YIN-HSIU CHIEN ; Yang C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 3 | 0 | |
17 | 2007 | The genetics of atopic dermatitis | YIN-HSIU CHIEN ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Clinical Reviews in Allergy and Immunology | 29 | 25 | |
18 | 2007 | A review of treatment of pompe disease in infants | YIN-HSIU CHIEN ; WUH-LIANG HWU | Biologics: Targets and Therapy | 13 | ||
19 | 2006 | Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Kobayashi K.; Saheki T.; HUEY-LING CHEN ; Chiu P.-C.; YEN-HSUAN NI ; MEI-HWEI CHANG ; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 28 | 15 | |
20 | 2004 | Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children | Liang J.-S.; WANG-TSO LEE ; WUH-LIANG HWU ; STEVEN SHINN-FORNG PENG ; Chu L.-W.; Wang P.-J.; Shen Y.-Z. | Acta Paediatrica Taiwanica | 9 | 0 | |
21 | 2004 | Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review | Chu S.-Y.; WEN-YU TSAI ; YIN-HSIU CHIEN ; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU | Tzu Chi Medical Journal | 1 |