| 臺大學術典藏 |
2020-12-24T06:16:32Z |
Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease
|
Chiu M.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Huang A.-C.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N. |
| 臺大學術典藏 |
2020-12-24T06:16:31Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
|
Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:31Z |
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
|
YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:29Z |
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
|
YIN-HSIU CHIEN; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:28Z |
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening
|
Liu S.-Y.; Lee C.-T.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:28Z |
Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan
|
Li M.-H.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:26Z |
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
|
Aksglaede L.; K?lker S.; Chabrol B.; Walter J.H.; Zeman J.; Sykut-Cegielska J.; Schiff M.; Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; YIN-HSIU CHIEN; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; Hwu W.-L.; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium |
| 臺大學術典藏 |
2020-12-24T06:16:26Z |
SHOX deficiency in short Taiwanese children: A single-center experience
|
Tsai W.-Y.; YIN-HSIU CHIEN; Lee C.-T.; Liu S.-Y.; Hwu W.-L.; Tung Y.-C.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:26Z |
Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?
|
YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Fang J.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:25Z |
Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease
|
Chiang S.-C.; Chen P.-W.; Hwu W.-L.; Lee A.-J.; Chen L.-C.; Lee N.-C.; Chiou L.-Y.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:24Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
|
Lee N.-C.; Liou H.-H.; Hwu W.-L.; Muramatsu S.-I.; Tsai L.-K.; YIN-HSIU CHIEN; Ho S.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:24Z |
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
|
Chang I.-F.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu R.-H.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:24Z |
Congenital generalized lipodystrophy in Taiwan
|
Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:23Z |
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments
|
Luo S.; Alexander Valencia C.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2020-12-24T06:16:21Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
Hwu W.-L.; Tseng W.-Y.I.; Peng S.-F.; Hsu Y.-C.; Tseng C.-H.; YIN-HSIU CHIEN; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:20Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
YIN-HSIU CHIEN; Chen N.-Q.; Tsai W.-H.; Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:20Z |
High incidence of co-existing GLA variants and stroke susceptibility
|
YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:20Z |
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan
|
Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:19Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Hsieh W.-S.; Lin S.-P.; Tsai I.-J.; Fan P.-C.; Tsao P.-N.; Chou H.-C.; Chen N.-Q.; Wu E.-T.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Chen T.-F. |
| 臺大學術典藏 |
2020-12-24T06:16:18Z |
Clinical features of Pompe disease with motor neuronopathy
|
Tsai L.-K.; Hwu W.-L.; Lee N.-C.; Huang P.-H.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:18Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
|
Fung J.L.-F.; Yeung K.-S.; Mak C.C.-Y.; Smeitink J.; Rodenburg R.J.T.; Chong S.-C.; Tsoi C.; Chan V.C.-M.; Kuo P.-L.; Hwu W.-L.; YIN-HSIU CHIEN; Quinzii C.M.; Lin S.-P.; Chou Y.-Y.; Kwong A.K.-Y.; Willis B.; Tse D.M.L.; Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Lam W.; Hui J.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:17Z |
Diversity in heritable disorders of connective tissue at a single center
|
Hsu R.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:17Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
Lee P.-L.; Hwu W.-L.; Chen C.-L.; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:16Z |
Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome
|
Fang W.-Q.; Hwu W.-L.; YIN-HSIU CHIEN; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J. |
| 臺大學術典藏 |
2020-12-24T06:16:16Z |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
|
Tan L.T.H.-C.; Lee C.-L.; Lin H.-Y.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN; Chuang C.-K.; Wu M.-H.; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-24T06:16:15Z |
Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant
|
YIN-HSIU CHIEN; Wang P.-J.; Chien C.-C.; Hwu W.-L.; Chu S.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:15Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
|
YIN-HSIU CHIEN; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:15Z |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
|
YIN-HSIU CHIEN; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:14Z |
Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma
|
YIN-HSIU CHIEN; Yang F.-J.; Weng H.-L.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:14Z |
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
|
Lee N.-C.; Lai F.; Lin I.-L.; Kuo C.-W.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Hung M.-Z. |
| 臺大學術典藏 |
2020-12-24T06:16:14Z |
Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort
|
Lin C.-H.; Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chen S.-J.; Lee B.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:13Z |
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
|
Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-24T06:16:13Z |
Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice
|
Lee N.-C.; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:12Z |
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan
|
YIN-HSIU CHIEN; Lee N.-C.; Chen P.-R.; Hwu W.-L.; Yang F.-J.; Weng H.-L. |
| 臺大學術典藏 |
2020-12-24T03:22:48Z |
Identification and management of cardiac perforation from a double lumen catheter in an infant [6]
|
Huang S.-C.; Ko W.-J.; Wang C.-C.;Chen Y.-W.;En-Ting Wu;Chien Y.-H.;Hwu W.-L.;Ko W.-J.;Huang S.-C.; Wang C.-C.; Chen Y.-W.; EN-TING WU; Chien Y.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T03:22:46Z |
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort
|
Wu M.-H.; Wang J.-K.; Wang C.-C.;Hwu W.-L.;En-Ting Wu;Lu F.;Wang J.-K.;Wu M.-H.; Wang C.-C.; Hwu W.-L.; EN-TING WU; Lu F. |
| 臺大學術典藏 |
2020-12-24T03:22:42Z |
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter
|
Huang S.-C.; EN-TING WU; Chiu S.; Hwu W.-L.; Wu M.-H.; Wang S.-S. |
| 臺大學術典藏 |
2020-12-24T03:22:35Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; EN-TING WU; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T03:22:32Z |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
|
Tsai I.-J.;Hwu W.-L.;Huang S.-C.;Lee N.-C.;En-Ting Wu;Chien Y.-H.;Tsau Y.-K.; Tsai I.-J.; Hwu W.-L.; Huang S.-C.; Lee N.-C.; EN-TING WU; Chien Y.-H.; Tsau Y.-K. |
| 臺大學術典藏 |
2020-12-24T02:04:13Z |
Cockayne syndrome in a family
|
Chien Y.-H.;Hung-Chieh Chou;Hwu W.-L.; Chien Y.-H.; HUNG-CHIEH CHOU; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T02:04:09Z |
Trisomy 18 in monozygotic twins with discordant phenotypes
|
Lee J.-T.;Hung-Chieh Chou;Tsao P.-N.;Hsieh W.-S.;Hwu W.-L.; Lee J.-T.; HUNG-CHIEH CHOU; Tsao P.-N.; Hsieh W.-S.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T02:03:54Z |
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation
|
Lee N.-C.; Chen Y.-T.; Tsao P.-N.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; HUNG-CHIEH CHOU; Chen C.-Y.; Hsieh W.-S. |
| 臺大學術典藏 |
2020-12-24T02:03:45Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Tsao P.-N.; HUNG-CHIEH CHOU; Chen T.-F.; Chen N.-Q.; Hsu C.; Chien Y.-H.; Hwu W.-L.; Wu E.-T.; Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Hung-Chieh Chou;Tsao P.-N.;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-22T03:29:49Z |
Trisomy 18 in monozygotic twins with discordant phenotypes
|
Lee J.-T.;Chou H.-C.;Po-Nien Tsao;Hsieh W.-S.;Hwu W.-L.; Lee J.-T.; Chou H.-C.; PO-NIEN TSAO; Hsieh W.-S.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-22T03:29:29Z |
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation
|
Lee N.-C.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; PO-NIEN TSAO; Chen Y.-T. |
| 臺大學術典藏 |
2020-12-21T08:19:31Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
Hwu W.-L.; I-JUNG TSAI; Lee W.-T.; Wu E.-T.; Huang P.-H.; Peng S.-F.; Weng W.-C.; Wu J.-F.; Chien Y.-H.; Tsai L.-P.; Liu H.-M.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-21T08:19:26Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Fan P.-C.;I-Jung Tsai;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; I-JUNG TSAI; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-21T02:55:19Z |
Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review
|
Lee N.-C.; Hsieh W.-S.; Yen T.-Y.; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; MING-TAI LIN; Tsao L.-Y. |
| 臺大學術典藏 |
2020-12-21T02:55:18Z |
Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease
|
Wu M.-H.; Wang J.-K.; Hwu W.-L.; MING-TAI LIN; Lee N.-C.; Chien Y.-H.; Chiu S.-N.; Chen C.-A.; Chen L.-R. |
| 臺大學術典藏 |
2020-12-21T02:55:15Z |
Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy
|
Chen C.-A.;Chien Y.-H.;Hwu W.-L.;Lee N.-C.;Wang J.-K.;Chen L.-R.;Lu C.-W.;Ming-Tai Lin;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; MING-TAI LIN; Chiu S.-N.; Chiu H.-H.; Wu M.-H. |
