Zobrazeno 1 - 10
of 439
pro vyhledávání: '"Shuan-Pei Lin"'
Autor:
Min-Hua Tseng, Shih-Hua Lin, Wen-Lang Fan, Ta-Wei Wu, Shuan-Pei Lin, Jhao-Jhuang Ding, I-Jung Tsai, Jeng-Daw Tsai
Publikováno v:
Journal of the Formosan Medical Association, Vol 123, Iss 6, Pp 647-654 (2024)
Background/Purpose: Congenital nephrotic syndrome (CNS) is one of the important causes of end-stage kidney disease in children. Studies on the genotype, phenotype, and clinical outcome in infants with CNS caused by genetic mutations are scarce. Metho
Externí odkaz:
https://doaj.org/article/1e170828760c4ebbb1c31b9c481d681c
Autor:
Tzu-Yu Chen, Shuan-Pei Lin, De-Fong Huang, Hsien-Sung Huang, Feng-Chiao Tsai, Li-Jen Lee, Hsiang-Yu Lin, Hsiang-Po Huang
Publikováno v:
Cell Death and Disease, Vol 15, Iss 4, Pp 1-18 (2024)
Abstract Mucopolysaccharidosis (MPS) type II is caused by a deficiency of iduronate-2-sulfatase and is characterized by the accumulation of glycosaminoglycans (GAGs). Without effective therapy, the severe form of MPS II causes progressive neurodegene
Externí odkaz:
https://doaj.org/article/e529a6b8ed7e46a396c2e19ae032fe0f
Autor:
Chung‐Lin Lee, Yeun‐Wen Chang, Hsiang‐Yu Lin, Hung‐Chang Lee, Ting‐Chi Yeh, Li‐Ching Fang, Ni‐Chung Lee, Jeng‐Daw Tsai, Shuan‐Pei Lin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐f
Externí odkaz:
https://doaj.org/article/9d06fb6cc5c045609567437446f84d3c
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole ex
Externí odkaz:
https://doaj.org/article/018bcbfda5d24cb1a20ec3e3bac830b5
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Diagnostics, Vol 14, Iss 16, p 1815 (2024)
Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese p
Externí odkaz:
https://doaj.org/article/02c1200cf9204d7da31eabca4f7bccaf
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 62, Iss 5, Pp 754-756 (2023)
Objective: We present genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the male carriers in the family. Case report: A 35-yea
Externí odkaz:
https://doaj.org/article/d193e805302a4b5bb2944002547551f2
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Diagnostics, Vol 14, Iss 8, p 846 (2024)
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype–phenotype correlations in Asian populations are not fully elucidated. This study performed a
Externí odkaz:
https://doaj.org/article/8d228755c9434cad837fa45f14317e66
Autor:
Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide. Recently, whole‐exome sequenci
Externí odkaz:
https://doaj.org/article/17a94807b9c94e02ba57edec90b18254
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Journal of the Formosan Medical Association, Vol 121, Iss 3, Pp 712-717 (2022)
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was diagnosed with hydrops fetalis and had ascites aspiration 4 times. In the following years, she presented gradually with chr
Externí odkaz:
https://doaj.org/article/40cbd7313bc04f238e5b2ea1d994c105
Autor:
Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)
Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therap
Externí odkaz:
https://doaj.org/article/3ded75f715844309990af3452c9afcb6