Ting-Rong Hsu

发表

Hypothesis: Febrile infection‐related epilepsy syndrome is a microglial NLRP3 inflammasome/IL‐1 axis‐driven autoinflammatory syndrome

Wei-Sheng Lin, Ting-Rong Hsu, Wei‐Sheng Lin, 2021, Clinical & translational immunology.

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes

Chih-jou Lai, D. Niu, An‐Guor Wang, 2017, Journal of the Chinese Medical Association : JCMA.

Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.

Hsiang-Yu Lin, D. Niu, Yu-Hsiu Huang, 2015, Clinical nutrition.

Therapeutic effects of children with refractory epilepsy after vagus nerve stimulation in Taiwan.

N. Chiu, Lung-Chang Lin, Rei-Cheng Yang, 2020, Pediatrics and neonatology.

Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease

T. Shih, H. Chiou, D. Niu, 2019, Journal of Medical and Biological Engineering.

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)

Hsiang-Yu Lin, Shuan-Pei Lin, D. Niu, 2013, BMJ Open.

Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa

Hsiang-Yu Lin, Shuan-Pei Lin, D. Niu, 2014, Journal of the Chinese Medical Association : JCMA.

Responsiveness of progressive optic pathway tumors to cisplatin-based chemotherapy in children

Kai-Ping Chang, T. Wong, D. Ho, 2008, Child's Nervous System.

Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.

D. Niu, Chun-kai Huang, Hsuan-Chieh Liao, 2017, Molecular genetics and metabolism.

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.

Aimé Ntwari, C. Auray-Blais, D. Niu, 2017, Clinica chimica acta; international journal of clinical chemistry.

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

Wen-Chung Yu, Hsiang-Yu Lin, D. Niu, 2015, JIMD reports.

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

Wen-Chung Yu, F. Tsai, C. Fann, 2013, Clinica chimica acta; international journal of clinical chemistry.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Wen-Chung Yu, R. Desnick, Hsiang-Yu Lin, 2016, Journal of the American College of Cardiology.

Vagus nerve stimulation for 6- to 12-year-old children with refractory epilepsy: Impact on seizure frequency and parenting stress index

Kai-Ping Chang, Shyi-Jou Chen, H. Fan, 2018, Epilepsy & Behavior.

Clinical Spectrum and Comorbidities of Dravet Syndrome in Taiwan

Inn-Chi Lee, Shyi-Jou Chen, H. Fan, 2021 .

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

W. Soong, Chih-jou Lai, D. Niu, 2016, The Journal of pediatrics.

Efficacy of temozolomide for recurrent embryonal brain tumors in children

Kai-Ping Chang, T. Wong, Ting-Rong Hsu, 2009, Child's Nervous System.

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

Wen-Chung Yu, S. Sung, D. Niu, 2017, International journal of molecular sciences.

Fabry disease: Review and experience during newborn screening.

D. Niu, Ting-Rong Hsu, 2017, Trends in cardiovascular medicine.

Tumor Necrosis Factor‐α and Interleukin‐10 in Viral and Bacterial Gastroenteritis in Children

R. Tang, Ting-Rong Hsu, Shu-Jen Chen, 2005 .

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

C. Tiu, Wen-Chung Yu, S. Hung, 2017, BMC Neurology.

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

S. Hung, Po‐Hsun Huang, D. Niu, 2017, Journal of Human Genetics.

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy

Shyi-Jou Chen, Chih-jou Lai, D. Niu, 2016, Journal of child neurology.

A large‐scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

Chih-jou Lai, D. Niu, Hui-Chen Ho, 2014, American journal of medical genetics. Part A.

Role of temozolomide in the treatment of newly diagnosed diffuse brainstem glioma in children: experience at a single institution

Yi-Wei Chen, Kai-Ping Chang, Yi-Yen Lee, 2010, Child's Nervous System.

Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease

Wen-Chung Yu, J. Liao, S. Sung, 2020, Journal of the Chinese Medical Association : JCMA.

Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients

Wen-Chung Yu, Yen-Feng Wang, S. Hung, 2018, Genetics in Medicine.

Linear scleroderma "en coup de sabre": initial presentation as intractable partial seizures in a child.

Kai-Ping Chang, T. Wong, Kuo-Liang Chiang, 2009, Pediatrics and neonatology.

The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago

Yun-Ru Chen, Kung-Hao Liang, D. Niu, 2020, Journal of Human Genetics.

DDDT_A_249433 2149..2158

U. Ramaswami, N. Karabul, G. Pintos-Morell, 2020 .

Indolent enhancing spinal lesions mimicking spinal metastasis in pediatric patients with malignant primary brain tumors

Yi-Wei Chen, Shih-Chieh Lin, Yi-Yen Lee, 2021, Scientific Reports.

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

Wen-Chung Yu, Hsiang-Yu Lin, Shuan-Pei Lin, 2014, Orphanet Journal of Rare Diseases.

Muscle ultrasound

H. Chiou, D. Niu, Hsin-Kai Wang, 2017, Medicine.

Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation

C. Lin, S. Hung, H.-J. Lee, 2016, American Journal of Neuroradiology.

Cognitive Assessment and Rehabilitation for Pediatric-Onset Multiple Sclerosis: A Scoping Review

Wei-Sheng Lin, Ting-Rong Hsu, Shan-Ju Lin, 2020, Children.

Change in treatment strategy for intracranial germinoma: Long‐term follow‐up experience at a single institute

Yi-Wei Chen, S. Chiou, Kai-Ping Chang, 2012, Cancer.

AB050. Later onset Fabry disease, cardiac damage progress in silence-experience with a highly prevalent mutation

Wen-Chung Yu, R. Desnick, S. Hung, 2017 .

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

S. Hung, Po‐Hsun Huang, D. Niu, 2017, Journal of Human Genetics.

Clinical considerations and surgical approaches for low-grade gliomas in deep hemispheric locations: thalamic lesions

Yi-Wei Chen, K. Hsieh, Kai-Ping Chang, 2016, Child's Nervous System.

Clinical manifestations of psychogenic non-epileptic seizures in children: Experiences from a single center.

K. Chang, Ting-Rong Hsu, Chia-Yih Wang, 2022, Pediatrics and neonatology.

Factors affecting survival of medulloblastoma in children: the changing concept of management

Yi-Wei Chen, Kai-Ping Chang, Shih-Chieh Lin, 2015, Child's Nervous System.

Cognitive and epilepsy outcomes after epilepsy surgery caused by focal cortical dysplasia in children: early intervention maybe better

T. Yeh, Yung-Yang Lin, L. Chu, 2014, Child's Nervous System.

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Wen-Chung Yu, Hsiang-Yu Lin, S. Sung, 2014, Orphanet Journal of Rare Diseases.

Clinical spectrum and the comorbidities of Dravet syndrome in Taiwan and the possible molecular mechanisms

Inn-Chi Lee, Shyi-Jou Chen, H. Fan, 2021, Scientific Reports.

Novel lissencephaly‐associated DCX variants in the C‐terminal DCX domain affect microtubule binding and dynamics

Meng-Han Tsai, Yo-Tsen Liu, J. Tsai, 2022, Epilepsia.

Primary yolk sac tumor of bilateral basal ganglia.

Kai-Ping Chang, T. Wong, D. Ho, 2010, Journal of the Chinese Medical Association : JCMA.