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1.
Revisiting the roles of glucose transporters in skeletal muscle physiology: is GLUT10 a novel player?
Biochem Biophys Res Commun
; 696: 149494, 2024 Feb 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38219491
2.
Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.
Epilepsia
; 63(5): 1253-1265, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35213059
3.
Spontaneous Assembly and Three-Dimensional Stacking of Antiaromatic 5,15-Dioxaporphyrin on HOPG.
Angew Chem Int Ed Engl
; 61(48): e202212726, 2022 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36207769
4.
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
J Hum Genet
; 65(7): 619-625, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32246049
5.
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
Genet Med
; 21(1): 224-232, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29875425
6.
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Mol Genet Metab
; 123(2): 140-147, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28615118
7.
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
J Hum Genet
; 63(1): 1-8, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29215092
8.
Vagus nerve stimulation for 6- to 12-year-old children with refractory epilepsy: Impact on seizure frequency and parenting stress index.
Epilepsy Behav
; 83: 119-123, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29702412
9.
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
BMC Neurol
; 17(1): 25, 2017 Feb 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28166746
10.
Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.
Int J Mol Sci
; 18(1)2017 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28075357
11.
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
J Pediatr
; 169: 174-80.e1, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26685070
12.
Clinical considerations and surgical approaches for low-grade gliomas in deep hemispheric locations: thalamic lesions.
Childs Nerv Syst
; 32(10): 1895-906, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27659831
13.
Factors affecting survival of medulloblastoma in children: the changing concept of management.
Childs Nerv Syst
; 31(10): 1687-98, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26351222
14.
A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
Am J Med Genet A
; 164A(1): 54-61, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24243590
15.
Cognitive and epilepsy outcomes after epilepsy surgery caused by focal cortical dysplasia in children: early intervention maybe better.
Childs Nerv Syst
; 30(11): 1885-95, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25296550
16.
Clinical manifestations of psychogenic non-epileptic seizures in children: Experiences from a single center.
Pediatr Neonatol
; 64(2): 201-207, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36153197
17.
Cardiomyocyte Globotriaosylceramide Accumulation in Adult Male Patients with Fabry Disease and IVS4 + 919G>A GLA Mutation is Progressive with Age and Correlates with Left Ventricular Hypertrophy and Reduced Left Ventricular Ejection Fraction.
medRxiv
; 2023 Dec 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38168318
18.
Change in treatment strategy for intracranial germinoma: long-term follow-up experience at a single institute.
Cancer
; 118(10): 2752-62, 2012 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21989828
19.
Role of Ketogenic Diets in Multiple Sclerosis and Related Animal Models: An Updated Review.
Adv Nutr
; 13(5): 2002-2014, 2022 10 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35679067
20.
Indolent enhancing spinal lesions mimicking spinal metastasis in pediatric patients with malignant primary brain tumors.
Sci Rep
; 12(1): 1728, 2022 02 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35110660