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C

Chih‐Kuang Chuang

Mackay Memorial Hospital

30H指数
152论文数
3.1K被引数
收录论文 62
发表时间
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Mitochondrial Quality Control in Inherited Mitochondrial Cardiomyopathy: Convergent Pathobiology and a Testable Therapeutic Framework线粒体质量控制在家系遗传性线粒体心肌病中的研究：共同的病理生物学及可验证的治疗框架
errInternational Journal of Molecular Sciences
IF4.9
err2026-09-18
err0
errOAAI
errChung-Lin Lee; Chih-Kuang Chuang; Ya-Hui Chang; Huei-Ching Chiu; Yuan-Rong Tu; Yun-Ting Lo; Jun-Yi Wu; Huang-Ying Huang; Hsiang-Yu Lin; Shuan-Pei Lin
err分享
err收藏
From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders从基因型到心脏表型：综合征性和代谢性障碍中的心血管受累
errInternational Journal of Molecular Sciences
IF4.9
err2026-08-14
err0
errOAAI
errChung-Lin Lee; Ya-Hui Chang; Chih-Kuang Chuang; Huei-Ching Chiu; Yuan-Rong Tu; Yun-Ting Lo; Jun-Yi Wu; Hsiang-Yu Lin; Shuan-Pei Lin
err分享
err收藏
Autophagy–Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy自噬-溶酶体功能障碍作为溶酶体贮积症中心肌病汇聚机制：从病理生物学到靶向治疗
errInternational Journal of Molecular Sciences
IF4.9
err2026-08-12
err0
errOAAI
errChung-Lin Lee; Chih-Kuang Chuang; Ya-Hui Chang; Huei-Ching Chiu; Yuan-Rong Tu; Yun-Ting Lo; Jun-Yi Wu; Hsiang-Yu Lin; Shuan-Pei Lin
err分享
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From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome从阵列比较基因组杂交到全基因组测序：一项历时29年的诊断历程，最终鉴定出与Cantú综合征一致的体细胞新生ABCC9变异
errDiagnostics
IF3.3
err2026-07-23
err0
errOAAI
errChung-Lin Lee; Ya-Hui Chang; Chih-Kuang Chuang; Huei-Ching Chiu; Yuan-Rong Tu; Yun-Ting Lo; Jun-Yi Wu; Hsiang-Yu Lin; Shuan-Pei Lin
err分享
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Nationwide Newborn Screening for Mucopolysaccharidoses in Taiwan: Impact, Early Diagnosis, and Clinical Advances over the Past Decade
errGenetics in Medicine
IF6.2
err2026-05-07
err0
PREAI
errChih-Kuang Chuang; Yuan-Rong Tu; Chung-Lin Lee; Yun-Ting Lo; Ya-Hui Chang; Jun-Yi Wu; Mei-Ying Liu; Hsin-Yun Liu; Hsiao-Jan Chen; Shu-Min Kao; Li-Yun Wang; Huey-Jane Ho; Hsiang-Yu Lin; Shuan-Pei Lin
err分享
err收藏
Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts新型表型洞察：来自新生儿筛查队列中粘多糖贮积症II型IDS c.817C>T变异的研究
errInternational Journal of Neonatal Screening
IF4
err2026-03-03
err0
errOAAI
errÉliane Beauregard-Lacroix; Caitlin Menello; Madeline Steffensen; Hsiang-Yu Lin; Chih-Kuang Chuang; Shuan-Pei Lin; Can Ficicioglu
err分享
err收藏
From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome
errCHILDREN-BASEL
IF2.1
err2025-11-03
err0
errOAAI
errLee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Lin, Hsiang-Yu; Lin, Shuan-Pei
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Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale儿童和青少年软骨发育不全患者功能独立性评估：一项使用WeeFIM量表的多中心横断面研究
errDiagnostics 2025, Vol. 15, Page 2532
IF3.3
err2025-10-07
err0
errOAAI
errChung-Lin Lee; Hung-Hsiang Fang; Chih-Kuang Chuang; Dau-Ming Niu; Ju-Li Lin; Mei-Chyn Chao; Yen-Yin Chou; Pao Chin Chiu; Chia-Chi Hsu; Tzu-Hung Chu; Yin-Hsiu Chien; Huei-Ching Chiu; Ya-Hui Chang; Yuan-Rong Tu; Yun-Ting Lo; Hsiang-Yu Lin; Shuan-Pei Lin
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err收藏
Functional Independence of Taiwanese Children with Silver-Russell Syndrome台湾患有silver-russell综合征的儿童的功能独立性
errDIAGNOSTICS
IF3.3
err2025-04-27
err0
errOAAI
errFang, Hung-Hsiang; Lee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Chou, Yen-Yin; Wang, Chung-Hsing; Lin, Shio-Jean; Chu, Shao-Yin; Yang, Chen; Ou, Tsung-Ying; Lin, Hsiang-Yu; Lin, Shuan-Pei
err分享
err收藏
Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening新生儿筛查确诊的黏多糖贮积症婴儿的多模态影像学系统分析
errDIAGNOSTICS
IF3.3
err2025-04-12
err0
errOAAI
errLee, Chung-Lin; Chang, Szu-Wen; Fang, Hung-Hsiang; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Lin, Shuan-Pei
err分享
err收藏
Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case
errDIAGNOSTICS
IF3.3
err2025-02-14
err0
errOAAI
errLee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
err分享
err收藏
Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks
errINTERNATIONAL JOURNAL OF MEDICAL SCIENCES
IF3.2
err2025-01-21
err0
errOAAI
errLee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Li, Shuan-Pei
err分享
err收藏
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series全外显子组测序有助于lesch-nyhan综合征的早期诊断: 病例系列
errDIAGNOSTICS
IF3.3
err2024-12-13
err1
errOAAI
errFang, Hung-Hsiang; Lee, Chung-Lin; Chen, Hui-Ju; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
err分享
err收藏
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
errGENETICS IN MEDICINE
IF6.2
err2024-12-01
err0
PREAI
errLin, Hsiang-Yu; Lee, Chung-Lin; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Niu, Dau-Ming; Liu, Mei-Ying; Liu, Hsin-Yun; Chen, Hsiao-Jan; Kao, Shu-Min; Wang, Li-Yun; Ho, Huey-Jane; Chuang, Chih-Kuang; Lin, Shuan-Pei
err分享
err收藏
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome
errDIAGNOSTICS
IF3.3
err2024-08-20
err0
errOAAI
errLee, Chung-Lin; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Ju-Li; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
err分享
err收藏
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome
errDIAGNOSTICS
IF3.3
err2024-04-19
err0
errOAAI
errLee, Chung-Lin; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Ju-Li; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
err分享
err收藏
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
errINTERNATIONAL JOURNAL OF MEDICAL SCIENCES
IF3.2
err2024-01-01
err0
errOAAI
errLin, Hsiang -Yu; Lee, Chung-Lin; Tu, Yuan-Rong; Chang, Ya-Hui; Niu, Dau-Ming; Chang, Chia-Ying; Chiu, Pao Chin; Chou, Yen -Yin; Hsiao, Hui -Pin; Tsai, Meng-Che; Chao, Mei-Chyn; Tsai, Li -Ping; Yang, Chia-Feng; Su, Pen-Hua; Pan, Yu -Wen; Lee, Chen-Hao; Chu, Tzu-Hung; Chuang, Chih-Kuang; Lin, Shuan-Pei
err分享
err收藏
Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA
errJOURNAL OF PERSONALIZED MEDICINE
IF3
err2023-03-09
err4
errOAAI
errLee, Yi-Hao; Su, Chin-Hui; Lin, Che-Yi; Lin, Hsiang-Yu; Lin, Shuan-Pei; Chuang, Chih-Kuang; Lee, Kuo-Sheng
err分享
err收藏
22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients
errINTERNATIONAL JOURNAL OF MEDICAL SCIENCES
IF3.2
err2023-01-01
err0
errOAAI
errLee, Chung-Lin; Lin, Shan-Miao; Chen, Ming-Ren; Chuang, Chih-Kuang; Chiu, Huei-Ching; Tu, Yuan-Rong; Lo, Yun-Ting; Chang, Ya-Hui; Lin, Hsiang-Yu; Lin, Shuan-Pei
err分享
err收藏
The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study
errJOURNAL OF PERSONALIZED MEDICINE
IF3
err2022-08-21
err3
errOAAI
errLao, Hsuan-Chih; Lin, Ying-Chun; Liang, Muh-Lii; Yang, Ying-Wei; Huang, Ya-Hsien; Chan, Ying-Lun; Hsu, Yung-Wei; Lin, Shuan-Pei; Chuang, Chih-Kuang; Cheng, Jen-Kun; Lin, Hsiang-Yu
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
M
Michael H. Gelb
H 指数: 105 · 论文数: 828
Y
Ying‐Wei Yang
H 指数: 89 · 论文数: 451
F
Fuu‐Jen Tsai
H 指数: 65 · 论文数: 795
C
Chih‐Ping Chen
H 指数: 58 · 论文数: 1.2K
W
Wuh‐Liang Hwu
H 指数: 58 · 论文数: 554
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