第 1 到 22 筆結果,共 22 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2023 | Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease | Hsu, Yu-Kang; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; WANG-TSO LEE ; NI-CHUNG LEE ; Po-Yu Huang, Eric; WEN-CHIN WENG | Genetics in medicine : official journal of the American College of Medical Genetics | 6 | 4 | |
2 | 2022 | Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG ; Tsai, Fuu Jen; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 5 | 5 | |
3 | 2019 | Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs | Hsu R.-H.; WUH-LIANG HWU ; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG ; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE | Pediatrics and Neonatology | 2 | 2 | |
4 | 2019 | Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency | Tseng C.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu Y.-C.; STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; WUH-LIANG HWU | Annals of Neurology | 20 | 18 | |
5 | 2016 | Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme | STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN | Orphanet Journal of Rare Diseases | 17 | 19 | |
6 | 2014 | Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta | Lin C.-H.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Tsai W.-Y.; YI-CHING TUNG ; CHENG-TING LEE ; Chien C.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 9 | 8 | |
7 | 2014 | Outcome of early-treated type III Gaucher disease patients | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; STEVEN SHINN-FORNG PENG ; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN ; WUH-LIANG HWU | Blood Cells, Molecules, and Diseases | 22 | 18 | |
8 | 2013 | Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Yang C.C.; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 34 | |
9 | 2013 | Promising outcomes in glutaric aciduria type i patients detected by newborn screening | Lee C.-S.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Cheng P.-W.; Chang L.-M.; Huang A.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Metabolic Brain Disease | 34 | 26 | |
10 | 2012 | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN ; JIA-FENG WU ; WEN-CHIN WENG ; STEVEN SHINN-FORNG PENG ; EN-TING WU ; PEI-HSIN HUANG ; WANG-TSO LEE ; I-JUNG TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 10 | 9 | |
11 | 2011 | Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease | STEVEN SHINN-FORNG PENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU ; WEN-YIH TSENG | Biomedical Engineering - Applications, Basis and Communications | 1 | 1 | |
12 | 2011 | Congenital hypopituitarism due to POU1F1 gene mutation | NI-CHUNG LEE ; Tsai W.-Y.; STEVEN SHINN-FORNG PENG ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 7 | 6 | |
13 | 2009 | Schizencephaly in LEOPARD Syndrome | Liang J.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Yeh S.-J.; STEVEN SHINN-FORNG PENG | Pediatric Neurology | 4 | 4 | |
14 | 2008 | Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia | NI-CHUNG LEE ; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU | Pediatric Neurology | 22 | 20 | |
15 | 2007 | Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; STEVEN SHINN-FORNG PENG ; SHYH-JYE CHEN ; WUH-LIANG HWU | Journal of inherited metabolic disease | 43 | 36 | |
16 | 2006 | Brain development in infantile-onset pompe disease treated by enzyme replacement therapy | YIN-HSIU CHIEN ; NI-CHUNG LEE ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU | Pediatric Research | 73 | 62 | |
17 | 2004 | Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment | STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU | American Journal of Neuroradiology | 26 | 22 | |
18 | 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 | |
19 | 2002 | Cranial MR spectroscopy of tetrahydrobiopterin deficiency | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Wang T.-R.; WUH-LIANG HWU | American Journal of Neuroradiology | 11 | 9 | |
20 | 2001 | Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1] | Wu C.-H.; WUH-LIANG HWU ; JOU-KOU WANG ; Young C.; STEVEN SHINN-FORNG PENG ; MENG-FAI KUO | American Journal of Medical Genetics | 8 | 7 | |
21 | 1999 | Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation | Hsu Y.-S.; WUH-LIANG HWU ; Huang S.-F.; MENG-YAO LU ; Chen R.-L.; DONG-TSAMN LIN ; STEVEN SHINN-FORNG PENG ; KAI-HSIN LIN | Bone Marrow Transplantation | 56 | 39 | |
22 | 1998 | Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease | STEVEN SHINN-FORNG PENG ; Li Y.-W.; WUH-LIANG HWU | Tzu Chi Medical Journal | 0 |