| 臺大學術典藏 |
2020-12-16T02:25:24Z |
Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening
|
Chien Y.-H.; Goldstein J.L.; WUH-LIANG HWU; Smith P.B.; Lee N.-C.; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P. |
| 臺大學術典藏 |
2020-12-16T02:25:24Z |
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population
|
Chang K.-L.; Chiang S.-C.; Chien Y.-H.; Yu H.-H.; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:24Z |
Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots
|
Chen P.-W.; Lee N.-C.; Chien Y.-H.; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:23Z |
Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes
|
Chien Y.-H.; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J. |
| 臺大學術典藏 |
2020-12-16T02:25:23Z |
Congenital malformations in newborns - A challenge unmet for decades
|
Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:23Z |
Pincer nail deformity as the main manifestation of Clouston syndrome
|
Hu Y.-H.;Lin Y.-C.;Wuh-Liang Hwu;Lee Y.-M.; Hu Y.-H.; Lin Y.-C.; WUH-LIANG HWU; Lee Y.-M. |
| 臺大學術典藏 |
2020-12-16T02:25:22Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
|
Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:22Z |
Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency
|
Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:22Z |
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency
|
Lee N.-C.; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.; Byrne B.J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:21Z |
Long-term outcome for Down syndrome patients with hematopoietic disorders
|
Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; WUH-LIANG HWU; Lin D.-T. |
| 臺大學術典藏 |
2020-12-16T02:25:21Z |
Advances in newborn screening for Pompe disease and resulting clinical outcomes
|
Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:21Z |
Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene
|
Lee N.-C.; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:20Z |
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
|
Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:20Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
|
Peng S.S.-F.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:20Z |
Integrated care for Down syndrome
|
Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:20Z |
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
|
Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:19Z |
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency
|
Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:19Z |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme
|
Lin H.-Y.;Chuang C.-K.;Huang Y.-H.;Tu R.-Y.;Lin F.-J.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Chou Y.-Y.;Tsai W.-H.;Chang T.-M.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:19Z |
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
|
Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M. |
| 臺大學術典藏 |
2020-12-16T02:25:18Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
|
Zeng Y.-T.;Wuh-Liang Hwu;Torng P.-C.;Lee N.-C.;Shieh J.-Y.;Lu L.;Chien Y.-H.; Zeng Y.-T.; WUH-LIANG HWU; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:18Z |
Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease
|
Chiang H.-L.;Wang N.H.-H.;Song I.-W.;Chang C.-P.;Wen M.-S.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chen Y.-T.;Wu J.-Y.; Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chen Y.-T.; Wu J.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:18Z |
Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10
|
Cheng W.;Huang P.-C.;Chao H.-M.;Jeng Y.-M.;Hsu H.-C.;Pan H.-W.;Wuh-Liang Hwu;Lee Y.-M.; Cheng W.; Huang P.-C.; Chao H.-M.; Jeng Y.-M.; Hsu H.-C.; Pan H.-W.; WUH-LIANG HWU; Lee Y.-M. |
| 臺大學術典藏 |
2020-12-16T02:25:17Z |
The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease
|
Kishnani P.S.; Burton B.K.;Kronn D.F.;Wuh-Liang Hwu;Kishnani P.S.; Burton B.K.; Kronn D.F.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:17Z |
Management of confirmed newborn-screened patients with pompe disease across the disease spectrum
|
Kronn D.F.;Day-Salvatore D.;Wuh-Liang Hwu;Jones S.A.;Nakamura K.;Okuyama T.;Swoboda K.J.;Kishnani P.S.; Kronn D.F.; Day-Salvatore D.; WUH-LIANG HWU; Jones S.A.; Nakamura K.; Okuyama T.; Swoboda K.J.; Kishnani P.S. |
| 臺大學術典藏 |
2020-12-16T02:25:17Z |
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
|
Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:17Z |
Gene therapy with modified U1 small nuclear RNA
|
Wuh-Liang Hwu;Lee Y.-M.;Lee N.-C.; WUH-LIANG HWU; Lee Y.-M.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:16Z |
Newborn screening for severe combined immunodeficiency in Taiwan
|
Chien Y.-H.;Yu H.-H.;Lee N.-C.;Ho H.-C.;Kao S.-M.;Lu M.-Y.;Jaing T.-H.;Lee W.-I.;Chang K.-W.;Shieh C.-C.;Chen J.-S.;Chiang S.-C.;Liu C.-C.;Wuh-Liang Hwu; Chien Y.-H.; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:16Z |
Introduction to the newborn screening, diagnosis, and treatment for pompe disease guidance supplement
|
Kishnani P.S.;Wuh-Liang Hwu; Kishnani P.S.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:16Z |
A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome
|
Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:16Z |
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
|
Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:15Z |
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.;Chien Y.-H.;Wuh-Liang Hwu;Tsai W.-Y.; Liu S.-Y.; Lee C.-T.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:15Z |
Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan
|
Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Li M.-H.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Li M.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:15Z |
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
|
Tai C.-H.; Chien Y.-H.;Lee N.-C.;Tseng S.-H.;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tseng S.-H.; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)
|
Lin H.-Y.;Chuang C.-K.;Chen M.-R.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
Management of Leigh syndrome: Current status and new insights
|
Chen L.;Cui Y.;Jiang D.;Ma C.Y.;Tse H.-F.;Wuh-Liang Hwu;Lian Q.; Chen L.; Cui Y.; Jiang D.; Ma C.Y.; Tse H.-F.; WUH-LIANG HWU; Lian Q. |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan
|
Tung Y.-C.;Fann C.S.-J.;Chang C.-C.;Chu C.-C.;Yang W.-S.;Wuh-Liang Hwu;Chen P.-L.;Tsai W.-Y.; Tung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; Yang W.-S.; WUH-LIANG HWU; Chen P.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
|
Lee N.-C.;Wuh-Liang Hwu;Muramatsu S.-I.;Falk D.J.;Byrne B.J.;Cheng C.-H.;Shih N.-C.;Chang K.-L.;Tsai L.-K.;Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
|
Posset R.;Garbade S.F.;Boy N.;Burlina A.B.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;De Lonlay P.;Teles E.L.;Vara R.;Ah Mew N.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.;Seminara J.;Summar M.;Hoffmann G.F.;K?Lker S.;Burgard P.;Berry S.A.;Burrage L.;Coughlin C.;Diaz G.A.;Gallagher R.C.;Gropman A.;Harding C.O.;Lee B.;Le Mons C.;Merritt J.L.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeld-Adams J.;Wong D.;Yudkoff M.;Arnoux J.-B.;Bari? I.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?S-Saladefont E.;Couce M.L.;De Laet C.;De Meirleir L.;Eyskens F.;Freisinger P.;Gleich F.;Gr?Newald S.;H?Berle J.;Wuh-Liang Hwu;Jalan A.;Karall D.;Lindner M.;Lund A.M.;Martinelli D.;Murphy E.;M?Hlhausen C.;Olivieri G.;Ottolenghi C.;Rodrigues E.;Rubert L.;Sarajlija A.;Schiff M.;Sokal E.;Sykut-Cegielska J.;Walter J.H.;Williams M.;Zeman J.;Additional Individual Contributors Of The Ucdc;The E-Imd Consortium; Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Ah Mew N.; Batshaw M.L.; Baumgartner M.R.; McCandless S.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Merritt J.L.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.; Wong D.; Yudkoff M.; Arnoux J.-B.; Bari? I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?s-Saladefont E.; Couce M.L.; de Laet C.; de Meirleir L.; Eyskens F.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; Sykut-Cegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional Individual Contributors Of The Ucdc; The E-Imd Consortium |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
|
Lonlay P.; Martinelli D.; Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium; Lindner M.; Karall D.; Laet C.; Jalan A.; Garcia-Cazorla A.; Valayannopoulos V.; Le?o Teles E.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Arnoux J.-B.; Bari? I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU; Ioannou H.; Posset R.;Garcia-Cazorla A.;Valayannopoulos V.;Le?O Teles E.;Dionisi-Vici C.;Brassier A.;Burlina A.B.;Burgard P.;Cort?S-Saladelafont E.;Dobbelaere D.;Couce M.L.;Sykut-Cegielska J.;H?Berle J.;Lund A.M.;Chakrapani A.;Schiff M.;Walter J.H.;Zeman J.;Vara R.;K?Lker S.;Arnoux J.-B.;Bari? I.;Bauchart E.;Baumgartner M.R.;Blasco-Alonso J.;Cardoso M.T.;Chabrol B.;Djordjevic M.;Eyskens F.;Freisinger P.;Gleich F.;Gradowska W.;Gr?Newald S.;Haege G.;Wuh-Liang Hwu;Ioannou H.;Jalan A.;Karall D.;Laet C.;Lindner M.;Lonlay P.;Martinelli D.;Meirleir L.;Mention K.;M?Hlhausen C.;Murphy E.;Baulny H.O.;Ortez C.;Pe?A-Quintana L.;Riches V.;Rodrigues E.;Sokal E.;Thompson N.;Wijburg F.A.;Williams M.;Zielonka M.;Additional Individual Contributors Of The E-Imd Consortium; Posset R. |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
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)
|
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.;Schiff M.;Sykut-Cegielska J.;Walter J.H.;Zeman J.;Chabrol B.;K?Lker S.;Aksglaede L.;Avram P.;Balmaseda-Serrano E.;Bauchart E.;Blasco-Alonso J.;Brassier A.;Chakrapani A.;Chien Y.-H.;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.;Wuh-Liang Hwu;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; 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.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; Chien Y.-H.; 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.; WUH-LIANG HWU; 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 |
2020-12-16T02:25:12Z |
Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?
|
Chien Y.-H.;Lee N.-C.;Wuh-Liang Hwu;Fang J.-Y.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU; Fang J.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period
|
Fang Y.-Y.; Niu D.-M.; Chiu P.C.; Lo Y.-T.; Tu R.-Y.; Lee C.-L.; Chuang C.-K.; Lin H.-Y.; Lin H.-Y.;Chuang C.-K.;Lee C.-L.;Tu R.-Y.;Lo Y.-T.;Chiu P.C.;Niu D.-M.;Fang Y.-Y.;Chen T.-L.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Chang T.-M.;Lin S.-P.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Chang T.-M.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
SHOX deficiency in short Taiwanese children: A single-center experience
|
Tung Y.-C.;Lee N.-C.;Wuh-Liang Hwu;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; WUH-LIANG HWU; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Biparental inheritance of mitochondrial DNA in humans
|
Luo S.;Valencia C.A.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Wuh-Liang Hwu;Fan P.-C.;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; WUH-LIANG HWU; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center
|
Lin C.-J.;Chien Y.-H.;Lai T.-S.;Shih H.-M.;Chen Y.-C.;Pan C.-F.;Chen H.-H.;Wuh-Liang Hwu;Wu C.-J.; Lin C.-J.; Chien Y.-H.; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU; Wu C.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
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.;Wuh-Liang Hwu;Lee A.-J.;Chen L.-C.;Lee N.-C.;Chiou L.-Y.;Chien Y.-H.; Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU; Lee A.-J.; Chen L.-C.; Lee N.-C.; Chiou L.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Functional independence of Taiwanese patients with mucopolysaccharidoses
|
Lee C.-L.;Lin H.-Y.;Chuang C.-K.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chiu P.-C.;Niu D.-M.;Chen Y.-J.;Chao M.-C.;Chang T.-M.;Lin J.-L.;Chang C.-Y.;Kao Y.-C.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
|
Posset R.;Garbade S.F.;Boy N.;Burlina A.B.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;De Lonlay P.;Teles E.L.;Vara R.;Mew N.A.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.E.;Seminara J.;Summar M.;Hoffmann G.F.;K?Lker S.;Burgard P.;Berry S.A.;Burrage L.;Coughlin C.;Diaz G.A.;Gallagher R.C.;Gropman A.;Harding C.O.;Lee B.;Le Mons C.;Lawrence Merritt J.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeldadams J.;Wong D.;Yudkoff M.;Arnoux J.;BariĆI.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?Ssaladefont E.;Couce M.L.;Eyskens F.;De Laet C.;De Meirleir L.;Freisinger P.;Gleich F.;Gr?Newald S.;H?Berle J.;Wuh-Liang Hwu;Jalan A.;Karall D.;Lindner M.;Lund A.M.;Martinelli D.;Murphy E.;M?Hlhausen C.;Olivieri G.;Ottolenghi C.;Rodrigues E.;Rubert L.;Sarajlija A.;Schiff M.;Sokal E.;Sykutcegielska J.;Walter J.H.;Williams M.;Zeman J.;Additional Individual Contributors Of The Ucdc;The E-Imd Consortium; Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortium |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Tung Y.-C.;Wuh-Liang Hwu;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; WUH-LIANG HWU; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
|
Lee N.-C.; Huang T.-M.; Chou S.-P.; Ho H.-C.; Chang I.-F.; WUH-LIANG HWU; Chien Y.-H.; Hsu R.-H.;Chien Y.-H.;Wuh-Liang Hwu;Chang I.-F.;Ho H.-C.;Chou S.-P.;Huang T.-M.;Lee N.-C.; Hsu R.-H. |
