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Genetic Disease Consultation Clinic
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Disease impact
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Rare Disease Care Plan Information Session
110 years of education and training in rare disease care programs
Rare Disease Care Program Diversified Activities
Activities of Taiwan Multiple Sclerosis Association North District Patient Association
111-year supervision theme education training and case seminar
2022/08/02Education training and aromatherapy stress relief
Add Line for Rare Disease Care
Satisfaction Survey
Rare Disease Care Handbook
Activities
2022
Niu Dau-Ming: Whole-gene sequencing can effectively prevent cancer and sudden death
Pompe disease treatment leads the world
Ministry of Health and Welfare Quarterly - Issue 33 2022.06
2021
"Fabry Disease Research and Treatment Center" won the SNQ Quality Mark Gold Award
Niu, Dau-Ming won the 31st Medical Dedication Award
Niu, Dau-Ming won the Medical Dedication Award, a clip of the press conference
Niu, Dau-Ming, winner of the Medical Service Award, clip of the award ceremony
The Hope of Rare Disease Patients
2020
2020 New Advances in Pediatric Medicine of the Chinese Medical Association
Good season Farm makes bamboo rice and pizza by itself
2019
108 year-end medical education and parent-child activities for patients
Williams Syndrome Association parent-child activities for patients
Director Niu Dau-Ming Fabry Disease domestic and foreign conferences
Hong Kong Pompe Disease Association visit
2018
Director Niu Dau-Ming Chinese Medical Association Fabry Disease domestic and foreign conferences
Director Dau-Ming Niu's 107 years of fruitful research results on Fabry Disease
Director Niu Dau-Ming's 2017 "Pompe Disease Medical Lecture"
Newborn’s blood looks like ‘strawberry milkshake’ Triglycerides rise to 20,000 and nearly fatal
2017
Director Dau-Ming Niu was invited to give lectures on Fabry disease in Japan
Director Niu, Dau-Ming participated in domestic and foreign medical conferences and shared records
(Reproduced from) TVBS report Niu, Dau-Ming director Fabry's disease - equipment donation ceremony
2016
Director Niu, Dau-Ming Fabry Disease Domestic and foreign conferences International exchanges
Reprinted from United Daily News - Niu, Dau-Ming, Newborn genetic testing actually saved this mother
2015
Director Dau-Ming Niu Fabry disease Symposium
Director Niu, Dau-Ming Taiwan-Japan Fabry disease Symposium
2014
Director Niu, Dau-Ming went to Fukuoka, Japan to share the Taiwan Fabry Disease experence
Niu, Dau-Ming attended International Conference on Fabry Disease
International Exchange Dr. Max J. Hilz from Germany visited and delivered a speech
2013
Director Dau-Ming Niu to International Conference on Fabry Syndrome in Spain
Director Dau-Ming Niu to Asia-Pacific Lysosome International Conference in Japan
Director Dau-Ming Niu gave a keynote speech at the Tokyo International Conference
Director Dau-Ming Niu Hosts International Symposium on Fabry Syndrome
Director Dau-Ming Niu Fabry's disease health education lecture
2012
Director Dau-Ming Niu Early detection of Fabry's disease blood test
Undertake the "Taiwan Fabry's Disease Clinical Trial Alliance" project
OPD consultation
Pompe disease consultation process
Hypothyroidism consultation process
Fabry's disease consultation process
G6PD favism consultation process
Growth Curve Calculator
Disease info
Growth hormone stimulation test(Clonidine)
Horizontal gaze palsy with progressive scoliosis (HGPPS)
Sex hormone test and sex hormone medication hospitalization common questions and answers
Short-chain acyl-coenzyme A dehydrogenase deficiency; SCAD
Tyrosinemia type II
Glutaric acidemia type I fever and diarrhea emergency treatment
Citrullinemia type II
Hypothyroidism medication dose education sheet
Glycogen Storage Disease Type 1A
Precocious puberty health education sheet
Fabry Disease
Primary carnitine deficiency syndrome
Homocystinuria
Adrenoleukodystrophy
Kabuki Syndrome
Russell-Silver Syndrome
Pompe Disease
Overweight oral steroid suppression test outpatient common questions and answers
Logistics Center for Rare Disease Drugs and Food
Free Foods and Drugs for Rare Diseases application regulations
Foods for Rare Diseases
Calogen
Phlexy-Vits
PK AID 4
I-Valex-2
Glutarex-2
Lorenzo's oil
BCAD
Phenyl Free 1
Alfaré
GA1 Anamix
PFD
Essential Amino Acid
Phenyl free 2
HCU Anamix
GENERAID plus
IVA Anamix
Cyclinex-1
Cyclinex-2
Tyrex-1
Tyrex-2
Hominex-2
Pregestimil
I-Valex-1
Glutarex-1
Hominex-1
MMA/PA Anamix
Medication for Rare Diseases
Arginine HCL Injection
BH4
Proglycem
Sodium Benzoate
Sucraid
Normosang
Rare disease safe food
Laboratory
實驗室簡介
Download
Search
Search
Introduction
Origin
Purpose
Organization
Service items
Genetic Disease Consultation Clinic
Development status
Future development
Newborn screening
Diagnosis statistics over the years
Rare Disease Care
Introduction to Rare Disease Care
Disease impact
Psychological support
Pregnancy care
Nursing consultation
Activities
Rare Disease Care Plan Information Session
110 years of education and training in rare disease care programs
Rare Disease Care Program Diversified Activities
Activities of Taiwan Multiple Sclerosis Association North District Patient Association
111-year supervision theme education training and case seminar
2022/08/02Education training and aromatherapy stress relief
Add Line for Rare Disease Care
Satisfaction Survey
Rare Disease Care Handbook
Activities
2022
Niu Dau-Ming: Whole-gene sequencing can effectively prevent cancer and sudden death
Pompe disease treatment leads the world
Ministry of Health and Welfare Quarterly - Issue 33 2022.06
2021
"Fabry Disease Research and Treatment Center" won the SNQ Quality Mark Gold Award
Niu, Dau-Ming won the 31st Medical Dedication Award
Niu, Dau-Ming won the Medical Dedication Award, a clip of the press conference
Niu, Dau-Ming, winner of the Medical Service Award, clip of the award ceremony
The Hope of Rare Disease Patients
2020
2020 New Advances in Pediatric Medicine of the Chinese Medical Association
Good season Farm makes bamboo rice and pizza by itself
2019
108 year-end medical education and parent-child activities for patients
Williams Syndrome Association parent-child activities for patients
Director Niu Dau-Ming Fabry Disease domestic and foreign conferences
Hong Kong Pompe Disease Association visit
2018
Director Niu Dau-Ming Chinese Medical Association Fabry Disease domestic and foreign conferences
Director Dau-Ming Niu's 107 years of fruitful research results on Fabry Disease
Director Niu Dau-Ming's 2017 "Pompe Disease Medical Lecture"
Newborn’s blood looks like ‘strawberry milkshake’ Triglycerides rise to 20,000 and nearly fatal
2017
Director Dau-Ming Niu was invited to give lectures on Fabry disease in Japan
Director Niu, Dau-Ming participated in domestic and foreign medical conferences and shared records
(Reproduced from) TVBS report Niu, Dau-Ming director Fabry's disease - equipment donation ceremony
2016
Director Niu, Dau-Ming Fabry Disease Domestic and foreign conferences International exchanges
Reprinted from United Daily News - Niu, Dau-Ming, Newborn genetic testing actually saved this mother
2015
Director Dau-Ming Niu Fabry disease Symposium
Director Niu, Dau-Ming Taiwan-Japan Fabry disease Symposium
2014
Director Niu, Dau-Ming went to Fukuoka, Japan to share the Taiwan Fabry Disease experence
Niu, Dau-Ming attended International Conference on Fabry Disease
International Exchange Dr. Max J. Hilz from Germany visited and delivered a speech
2013
Director Dau-Ming Niu to International Conference on Fabry Syndrome in Spain
Director Dau-Ming Niu to Asia-Pacific Lysosome International Conference in Japan
Director Dau-Ming Niu gave a keynote speech at the Tokyo International Conference
Director Dau-Ming Niu Hosts International Symposium on Fabry Syndrome
Director Dau-Ming Niu Fabry's disease health education lecture
2012
Director Dau-Ming Niu Early detection of Fabry's disease blood test
Undertake the "Taiwan Fabry's Disease Clinical Trial Alliance" project
OPD consultation
Pompe disease consultation process
Hypothyroidism consultation process
Fabry's disease consultation process
G6PD favism consultation process
Growth Curve Calculator
Disease info
Growth hormone stimulation test(Clonidine)
Horizontal gaze palsy with progressive scoliosis (HGPPS)
Sex hormone test and sex hormone medication hospitalization common questions and answers
Short-chain acyl-coenzyme A dehydrogenase deficiency; SCAD
Tyrosinemia type II
Glutaric acidemia type I fever and diarrhea emergency treatment
Citrullinemia type II
Hypothyroidism medication dose education sheet
Glycogen Storage Disease Type 1A
Precocious puberty health education sheet
Fabry Disease
Primary carnitine deficiency syndrome
Homocystinuria
Adrenoleukodystrophy
Kabuki Syndrome
Russell-Silver Syndrome
Pompe Disease
Overweight oral steroid suppression test outpatient common questions and answers
Logistics Center for Rare Disease Drugs and Food
Free Foods and Drugs for Rare Diseases application regulations
Foods for Rare Diseases
Calogen
Phlexy-Vits
PK AID 4
I-Valex-2
Glutarex-2
Lorenzo's oil
BCAD
Phenyl Free 1
Alfaré
GA1 Anamix
PFD
Essential Amino Acid
Phenyl free 2
HCU Anamix
GENERAID plus
IVA Anamix
Cyclinex-1
Cyclinex-2
Tyrex-1
Tyrex-2
Hominex-2
Pregestimil
I-Valex-1
Glutarex-1
Hominex-1
MMA/PA Anamix
Medication for Rare Diseases
Arginine HCL Injection
BH4
Proglycem
Sodium Benzoate
Sucraid
Normosang
Rare disease safe food
Laboratory
實驗室簡介
Download
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方士毓 (SHIH-YU FANG)
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2026年臺灣神經學學會壁報論文口頭報告優等
2025年臺北市醫師公會青年杏林奬
2025年臺北榮民總醫院住院醫師杏林獎第一名
2025年吳舜⽂基⾦會李良雄教授論⽂獎
2024年臺灣神經罕⾒疾病學會年會暨國際學術研討會,海報發表佳作
2022年度臺北榮民總醫院最佳教學住院醫師
2022年臺灣神經罕見疾病學會年會論文口頭報告金獎
媒體影音報導:
手腳末梢疼痛、皮膚現黑紫疹 竟是遺傳疾病惹禍
(自由健康網 2025/4/23)
論文發表
:
Fang SY
, Jih KY , Chao YC, Sytwu HP , Shih YC, Liao YC, Lee YC. Clinical and electrophysiological features for differentiating MMN from hand-onset ALS. J Chin Med Assoc. 2026;89(6):437-444.
Sytwu HP, Jih KY, Tsai YS,
Fang SY
, Liao YC, Lee YC. FUS-associated ALS in Taiwan: genetic spectrum, clinical features, and a founder haplotype of p.H517D. J Neurol. 2026;273(7):387.
Jih KY, Tsai YS,
Fang SY
, Hsu FC, Sytwu HP, Liao YC, Tsai PC, Lee YC. SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect. Amyotroph Lateral Scler Frontotemporal Degener. 2026;27(3-4):338-347.
Jih KY,
Fang SY
, Lee YC. Advances in ALS genetics and emerging precision therapies. J Formos Med Assoc. 2025;125(1):S48-S54.
Jih KY, Hsu TR, Fuh JL, Lee TH, Lin YS,
Fang SY
, Liao YC, Lee YC. Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis. Alzheimers Res Ther. 2025 Apr 30;17(1):96.
Fang SY
, Hsiao CT, Jih KY, et al. Investigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort. Ann Clin Transl Neurol. 2025;12(1):158-168.
Jih KY,
Fang SY
, Tsai YS, Sytwu HP, Liao YC, Lee YC. TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects. J Neurol Sci. 2025;474:123531.
Chen, SC, Chen YH,
Fang SY
, Hsu HT, Chang FP, Jih KY, Liao YC, Lee YC, Lai KL. Neuronal Intranuclear Inclusion Disease Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Case Report. Acta Neurol Taiwan. 2025;34(4):239-244.
Fang SY
, Tsai PC, Jih KY, Hsu FC, Liao YC, Yang CC, Lee YC. TBK1 p.Y153Qfs*9 variant may associate with young onset, rapidly progressive ALS through a haploinsufficiency mechanism. J Chin Med Assoc. 2024;87(10):920-926.
Fang SY
, Chou YT, Hsu KC, et al. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia. Ann Clin Transl Neurol. 2023;10(3):353-362.
Juan CH,
Fang SY
, Chou CH, Tsai TY, Lin YT. Clinical characteristics of patients with pneumonia caused by Klebsiella pneumoniae in Taiwan and prevalence of antimicrobial-resistant and hypervirulent strains: a retrospective study. Antimicrob Resist Infect Control. 2020;9(1):4.