| 臺大學術典藏 |
2021-06-10T07:01:45Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
|
Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; NI-CHUNG LEE; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-10T06:57:52Z |
Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development
|
Wu, Frank Shao-Ying; Weng, Shao-Ping; Shen, Meng-Shun; Ma, Pei-Chun; Wu, Po-Kuan; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-05-26T03:52:07Z |
Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2
|
Hsieh, Paul Chen; CHEN-CHI WU; NI-CHUNG LEE; JUNG-HSIEN HSIEH; YI-HUA LIAO |
| 臺大學術典藏 |
2021-03-22T03:55:46Z |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy
|
Tsai, Pei I.; Lin, Han Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng Ling; Cheng, Jay; Huang, Cheng Yen; Wu, Yen Sheng; Lai, Hsing Jung; Tsai, Hsin Hsi; Lo, Wen Chun; Hung, Yu Chien; Ke, Yi Ci; Farrer, Matthew; CHIN-HSIEN LIN; SHIOU-RU TZENG; RUOH-FANG YEN; NI-CHUNG LEE; CHIH-CHIANG CHAN; CHI-CHAO CHAO; SUNG-TSANG HSIEH; RUEY-MEEI WU |
| 臺大學術典藏 |
2021-03-02T14:00:29Z |
Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development
|
Wu, Frank Shao Ying; Weng, Shao Ping; Shen, Meng Shun; Ma, Pei Chun; Wu, Po Kuan; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-01-18T09:12:02Z |
Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2
|
Hsieh, Paul Chen; CHEN-CHI WU; NI-CHUNG LEE; JUNG-HSIEN HSIEH; YI-HUA LIAO |
| 臺大學術典藏 |
2020-12-10T01:24:26Z |
A case of GNE myopathy mimicking hereditary motor neuropathy
|
Huang, Y-N;Chuang, H-J;Hsueh, H-W;Huang, H-C;Ni-Chung Lee;Chao, C-C;Huang, P-H;Lee, Y-C;Lin, K-P;Yang, C-C;Hsieh, S-T; Huang, Y-N; Chuang, H-J; Hsueh, H-W; Huang, H-C; NI-CHUNG LEE; Chao, C-C; Huang, P-H; Lee, Y-C; Lin, K-P; Yang, C-C; Hsieh, S-T |
| 臺大學術典藏 |
2020-12-10T01:22:45Z |
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report
|
Chang, Kai-Chieh;Kuo, Yih-Chih;Hsueh, Hsueh-Wen;Ni-Chung Lee;Yang, Chih-Chao;Hsieh, Sung-Tsang;Chao, Chi-Chao; Chang, Kai-Chieh; Kuo, Yih-Chih; Hsueh, Hsueh-Wen; NI-CHUNG LEE; Yang, Chih-Chao; Hsieh, Sung-Tsang; Chao, Chi-Chao |
| 臺大學術典藏 |
2020-12-10T01:14:55Z |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy
|
Lin, Chin-Hsien;Tsai, Pei-I;Lin, Han-Yi;Hattori, Nobutaka;Funayama, Manabu;Jeon, Beomseok;Sato, Kota;Abe, Koji;Mukai, Yohei;Takahashi, Yuji;Li, Yuanzhe;Nishioka, Kenya;Yoshino, Hiroyo;Daida, Kensuke;Chen, Meng-Ling;Cheng, Jay;Huang, Cheng-Yen;Tzeng, Shiou-Ru;Wu, Yen-Sheng;Lai, Hsing-Jung;Tsai, Hsin-Hsi;Yen, Ruoh-Fang;Ni-Chung Lee;Lo, Wen-Chun;Hung, Yu-Chien;Chan, Chih-Chiang;Ke, Yi-Ci;Chao, Chi-Chao;Hsieh, Sung-Tsang;Farrer, Matthew;Wu, Ruey-Meei; Lin, Chin-Hsien; Tsai, Pei-I; Lin, Han-Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng-Ling; Cheng, Jay; Huang, Cheng-Yen; Tzeng, Shiou-Ru; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; Yen, Ruoh-Fang; NI-CHUNG LEE; Lo, Wen-Chun; Hung, Yu-Chien; Chan, Chih-Chiang; Ke, Yi-Ci; Chao, Chi-Chao; Hsieh, Sung-Tsang; Farrer, Matthew; Wu, Ruey-Meei |
| 臺大學術典藏 |
2020-12-10T01:05:24Z |
Towards a reference genome that captures global genetic diversity
|
Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; NI-CHUNG LEE; Hwu, Wuh-Liang; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan |
| 臺大學術典藏 |
2020-12-09T01:38:45Z |
Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibility
|
Ni-Chung Lee;Chen S.-J.;Tang R.-B.;Hwang B.-T.; NI-CHUNG LEE; Chen S.-J.; Tang R.-B.; Hwang B.-T. |
| 臺大學術典藏 |
2020-12-09T01:38:45Z |
Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case Report
|
Ni-Chung Lee;Hwang B.;Tui C.-M.;Wei C.-F.;Lee P.-C.; NI-CHUNG LEE; Hwang B.; Tui C.-M.; Wei C.-F.; Lee P.-C. |
| 臺大學術典藏 |
2020-12-09T01:38:45Z |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One Case
|
Ni-Chung Lee;Tiu C.-M.;Soong W.-J.;Tsen C.-L.;Hwang B.-T.;Wei C.-F.; NI-CHUNG LEE; Tiu C.-M.; Soong W.-J.; Tsen C.-L.; Hwang B.-T.; Wei C.-F. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Corneal lesion as the initial manifestation of tyrosinemia type II
|
Tsai C.-P.;Lin P.-Y.;Ni-Chung Lee;Niu D.-M.;Lee S.-M.;Hsu W.-M.; Tsai C.-P.; Lin P.-Y.; NI-CHUNG LEE; Niu D.-M.; Lee S.-M.; Hsu W.-M. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
|
Hsiao K.-J.; Chiu P.-C.; Niu D.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Ni-Chung Lee;Cheng L.-Y.;Liu T.-T.;Hsiao K.-J.;Chiu P.-C.;Niu D.-M. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.
|
Ni-Chung Lee;Hwang B.;Chen C.H.;Niu D.M.; NI-CHUNG LEE; Hwang B.; Chen C.H.; Niu D.M. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism
|
Niu D.M.;Hwang B.;Tiu C.M.;Tsai L.P.;Yen J.L.;Ni-Chung Lee;Lin C.-Y.; Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE; Lin C.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:43Z |
Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
|
Chien Y.-H.;Ni-Chung Lee;Peng S.-F.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Peng S.-F.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:43Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
|
Ni-Chung Lee;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:43Z |
α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5]
|
Ni-Chung Lee;Niu D.-M.;Lin C.-Y.;Hsiao K.-J.;Yang A.-H.;Ng Y.-Y.; NI-CHUNG LEE; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:42Z |
Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan
|
Chien Y.-H.;Ni-Chung Lee;Wu S.-T.;Liou J.-J.;Chen H.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:42Z |
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
|
Hwu W.L.;Chien Y.H.;Tang N.L.;Law L.K.;Lin C.Y.;Ni-Chung Lee; Hwu W.L.; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:42Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
|
Chien Y.H.;Ni-Chung Lee;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Hwu W.L.; Chien Y.H.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L. |
| 臺大學術典藏 |
2020-12-09T01:38:41Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Ni-Chung Lee;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:41Z |
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
|
Liu K.-M.;Liu T.-T.;Ni-Chung Lee;Cheng L.-Y.;Hsiao K.-J.;Niu D.-M.; Liu K.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M. |
| 臺大學術典藏 |
2020-12-09T01:38:40Z |
Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy
|
Wang S.-B.;Weng W.-C.;Ni-Chung Lee;Hwu W.-L.;Fan P.-C.;Lee W.-T.; Wang S.-B.; Weng W.-C.; NI-CHUNG LEE; Hwu W.-L.; Fan P.-C.; Lee W.-T. |
| 臺大學術典藏 |
2020-12-09T01:38:40Z |
Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review
|
Yen T.-Y.;Hwu W.-L.;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Ni-Chung Lee; Yen T.-Y.; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:40Z |
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
|
Chen H.-W.;Chen H.-L.;Ni Y.-H.;Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:39Z |
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
|
Chien Y.H.; Huang H.P.; Hwu W.L.; Chien Y.H.; Chang T.C.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:39Z |
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
|
NI-CHUNG LEE; Dimmock D.; Hwu W.-L.; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C. |
| 臺大學術典藏 |
2020-12-09T01:38:39Z |
Screening for pompe disease and fabry disease
|
Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:39Z |
Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease
|
Chen C.-A.; Chiu S.-N.; Chien Y.-H.; NI-CHUNG LEE; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.; Chen L.-R.;Chen C.-A.;Chiu S.-N.;Chien Y.-H.;Ni-Chung Lee;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Chen L.-R. |
| 臺大學術典藏 |
2020-12-09T01:38:38Z |
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
|
Chiang P.-W.; NI-CHUNG LEE; Chien N.; Hwu W.-L.; Spector E.; Tsai A.C.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:38Z |
Glycogen Storage Disease Type Ib: The First Case in Taiwan
|
Hsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; NI-CHUNG LEE; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:38Z |
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR
|
Hung C.-C.;Lin S.-Y.;Lin S.-P.;Niu D.-M.;Ni-Chung Lee;Cheng W.-F.;Chen C.-P.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE; Cheng W.-F.; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-12-09T01:38:38Z |
Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia
|
NI-CHUNG LEE; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:37Z |
Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding
|
Ni-Chung Lee;Chang S.-P.;Chang C.-S.;Chen C.-H.;Lee D.-J.;Lin C.-C.;Hwu W.-L.;Ming C.; NI-CHUNG LEE; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; Hwu W.-L.; Ming C. |
| 臺大學術典藏 |
2020-12-09T01:38:37Z |
Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti
|
Ni-Chung Lee;Huang C.H.;Hwu W.L.;Chien Y.H.;Chang Y.Y.;Chen C.H.;Ko T.M.; NI-CHUNG LEE; Huang C.H.; Hwu W.L.; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M. |
| 臺大學術典藏 |
2020-12-09T01:38:37Z |
Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
|
Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. |
| 臺大學術典藏 |
2020-12-09T01:38:36Z |
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency
|
Chang K.-L.;Hwu W.-L.;Yeh H.-Y.;Ni-Chung Lee;Chien Y.-H.; Chang K.-L.; Hwu W.-L.; Yeh H.-Y.; NI-CHUNG LEE; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:36Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
|
Chen P.W.;Hwu W.L.;Ho M.C.;Ni-Chung Lee;Chien Y.H.;Ni Y.H.;Lee P.H.; Chen P.W.; Hwu W.L.; Ho M.C.; NI-CHUNG LEE; Chien Y.H.; Ni Y.H.; Lee P.H. |
| 臺大學術典藏 |
2020-12-09T01:38:36Z |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan
|
Lin H.-Y.;Chen M.-R.;Chuang C.-K.;Chen C.-P.;Lin D.-S.;Chien Y.-H.;Ke Y.-Y.;Tsai F.-J.;Pan H.-P.;Lin S.-J.;Hwu W.-L.;Niu D.-M.;Ni-Chung Lee;Lin S.-P.; Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P. |
| 臺大學術典藏 |
2020-12-09T01:38:36Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Chien Y.-H.; NI-CHUNG LEE; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:35Z |
Newborn screening for neuropathic lysosomal storage disorders
|
Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:35Z |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
|
Hung P.-Y.; Niu D.-M.; Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Ni-Chung Lee;Hwu W.-L.;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE; Hwu W.-L.; Lin J.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:35Z |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
|
Labrousse P.;Chien Y.-H.;Pomponio R.J.;Keutzer J.;Ni-Chung Lee;Akmaev V.R.;Scholl T.;Hwu W.-L.; Labrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE; Akmaev V.R.; Scholl T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:35Z |
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
|
Lin W.-D.;Chou I.-C.;Ni-Chung Lee;Wang C.-H.;Hwu W.-L.;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; NI-CHUNG LEE; Wang C.-H.; Hwu W.-L.; Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J. |
| 臺大學術典藏 |
2020-12-09T01:38:35Z |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
|
NI-CHUNG LEE; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.; Ni-Chung Lee;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:34Z |
Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening
|
Chien Y.-H.;Ni-Chung Lee;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:34Z |
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease
|
Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE; Keutzer J.; Hwu W.-L.; Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Ni-Chung Lee;Keutzer J.;Hwu W.-L.; Chien Y.-H.; Olivova P. |
