Որոնման արդյունքները - Yin‐Hsiu Chien
- Ցուցադրվում են 1 - 20 արդյունքները 49
- Գնացեք Հաջորդ էջ
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Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat Mark Walterfang, Yin‐Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger, Marc C. Patterson
Հրապարակվել է 2012Revisão -
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Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Commo... Yin‐Hsiu Chien, Ni‐Chung Lee, Shu-Chuan Chiang, Robert J. Desnick, Wuh‐Liang Hwu
Հրապարակվել է 2012Artigo -
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Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy Nina Raben, Evelyn Ralston, Yin‐Hsiu Chien, Rebecca Baum, Cynthia Schreiner, Wuh‐Liang Hwu, Kristien J.M. Zaal, Paul H. Plötz
Հրապարակվել է 2010Artigo -
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Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial Yin‐Hsiu Chien, Ni‐Chung Lee, Sheng‐Hong Tseng, Chun‐Hwei Tai, Shin‐ichi Muramatsu, Barry J. Byrne, Wuh‐Liang Hwu
Հրապարակվել է 2017Artigo -
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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients Erin Feeney, Stephanie Austin, Yin‐Hsiu Chien, Hanna Mandel, Benedikt Schoser, Sean N. Prater, Wuh‐Liang Hwu, Evelyn Ralston, Priya S. Kishnani, Nina Raben
Հրապարակվել է 2014Artigo -
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Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin Jing Wang, Hong Cui, Ni‐Chung Lee, Wuh‐Liang Hwu, Yin‐Hsiu Chien, William J. Craigen, Lee‐Jun C. Wong, Victor Wei Zhang
Հրապարակվել է 2012Artigo -
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Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency Wuh‐Liang Hwu, Agathe Roubertie, Yin‐Hsiu Chien, Antonia Wang, Alexis Russell, Ni‐Chung Lee, Pedro Eugenio Pachelli, Andressa Federhen, Chun‐Hwei Tai
Հրապարակվել է 2023Artigo -
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Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino acid decarboxylase deficiency Wuh‐Liang Hwu, Agathe Roubertie, Yin‐Hsiu Chien, Ni‐Chung Lee, Antonia Wang, Alexis Russell, Pedro Eugenio Pachelli, Luciana Giugliani, Andressa Federhen, Chun‐Hwei Tai
Հրապարակվել է 2023Artigo -
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Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders Ivo Barić, Christian Staufner, Persephone Augoustides‐Savvopoulou, Yin‐Hsiu Chien, Dries Dobbelaere, Sarah C. Grünert, Thomas Opladen, Danijela Petković Ramadža, Bojana Rakić, Anna Wedell, Henk J. Blom
Հրապարակվել է 2016Revisão -
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Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences Yin‐Hsiu Chien, Wen-Hui Tsai, Chaw‐Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu‐Jen Tsai, Siew-Lee Wong, Ni‐Chung Lee, Wuh‐Liang Hwu
Հրապարակվել է 2020Artigo -
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Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns Yin‐Hsiu Chien, Ni‐Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao‐Chin Chiu, Shao‐Yin Chu, Chen‐Hao Lee, An-Ru Lee, Wuh‐Liang Hwu
Հրապարակվել է 2020Artigo -
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Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer’s Disease Ni‐Chung Lee, Shieh‐Yueh Yang, Jen-Jie Chieh, Po-Tsang Huang, Lih-Maan Chang, Yen‐Nan Chiu, Ai-Chiu Huang, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ming‐Jang Chiu
Հրապարակվել է 2017Artigo -
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Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Clinton Llerena, Zuhair N. Al‐Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin‐Hsiu Chien
Հրապարակվել է 2023Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Medicine
Internal medicine
Biology
Disease
Gene
Genetics
Biochemistry
Pediatrics
Enzyme replacement therapy
Newborn screening
Pathology
Enzyme
Chemistry
Endocrinology
Physics
Allele
Glycogen storage disease type II
Mutation
Surgery
Compound heterozygosity
Amino acid
Confidence interval
Incidence (geometry)
Optics
Phenotype
Psychiatry
Adverse effect
Aromatic L-amino acid decarboxylase
Cell biology
Chromatography