| 臺大學術典藏 |
2020-12-18T02:21:47Z |
Early pathologic changes and responses to treatment in patients with later-onset Pompe disease
|
Chien Y.-H.; Lee N.-C.; Huang P.-H.; WANG-TSO LEE; Thurberg B.L.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-18T02:21:47Z |
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.; Wu E.-T.; Huang P.-H.; WANG-TSO LEE; Tsai I.-J.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-18T02:21:43Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
|
WANG-TSO LEE; Wu C.-S.; Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L. |
| 臺大學術典藏 |
2020-12-18T02:21:38Z |
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
|
Chiang S.-C.; Chien Y.-H.; Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Wang-Tso Lee;Jong Y.-J.;Ko T.-M.;Hwu W.-L.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE; Jong Y.-J.; Ko T.-M.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-18T02:21:33Z |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Weng W.-C.;Hsu Y.-K.;Chang F.-M.;Lin C.-Y.;Hwu W.-L.;Wang-Tso Lee;Lee N.-C.;Chien Y.-H.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L.; WANG-TSO LEE; Lee N.-C.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-17T08:17:55Z |
Identification and management of cardiac perforation from a double lumen catheter in an infant [6]
|
CHING-CHIA WANG; Chen Y.-W.; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Ko W.-J.; Huang S.-C. |
| 臺大學術典藏 |
2020-12-17T08:17:54Z |
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort
|
Wu M.-H.; CHING-CHIA WANG; Hwu W.-L.; Wu E.-T.; Lu F.; Wang J.-K. |
| 臺大學術典藏 |
2020-12-17T02:28:40Z |
Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010
|
Tsai Y.-C.; Hwu W.-L.; HSIN-HUI YU; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; Lin C.-Y.; Wu K.-H.; Huang Y.-C.; Chiu C.-H.; Lin T.-Y.; Yao T.-C.; Ou L.-S.; Chen L.-C.; Yeh K.-W.; Lin S.-J.; Shieh C.-C.; Chiou S.-S.; Soong W.-J.; Lee W.-I. ;Huang J.-L. ;Jaing T.-H. ;Shyur S.-D. ;Yang K.D. ;Chien Y.-H. ;Chiang B.-L. ;Soong W.-J. ;Chiou S.-S. ;Shieh C.-C. ;Lin S.-J. ;Yeh K.-W. ;Chen L.-C. ;Ou L.-S. ;Yao T.-C. ;Lin T.-Y. ;Chiu C.-H. ;Huang Y.-C. ;Wu K.-H. ;Lin C.-Y. ;Hsin-Hui Yu ;Yang Y.-H. ;Yu H.-R. ;Yen H.-J. ;Hsieh M.-Y. ;Kuo M.-L. ;Hwu W.-L. ;Tsai Y.-C. ;Kuo H.-C. ;Lin Y.-L. ;Shih Y.-F. ;Chang K.-W.; Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; Chiang B.-L.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. |
| 臺大學術典藏 |
2020-12-17T02:28:33Z |
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population
|
Chien Y.-H.;Chiang S.-C.;Chang K.-L.;Hsin-Hui Yu;Lee W.-I.;Tsai L.-P.;Hsu L.-W.;Hu M.-H.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-17T02:28:30Z |
Newborn screening for severe combined immunodeficiency in Taiwan
|
Chien Y.-H.; HSIN-HUI YU; 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.; Hwu W.-L.; Chien Y.-H.;Hsin-Hui Yu;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.;Hwu W.-L. |
| 臺大學術典藏 |
2020-12-17T02:28:29Z |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
|
Hsin-Hui Yu;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Chiang B.-L.; HSIN-HUI YU; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2020-12-16T07:22:11Z |
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
|
Hsu Y.-S.;Hwu W.-L.;Huang S.-F.;Meng-Yao Lu;Chen R.-L.;Lin D.-T.;Peng S.S.F.;Lin K.-H.; Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; MENG-YAO LU; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H. |
| 臺大學術典藏 |
2020-12-16T07:21:51Z |
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.; MENG-YAO LU; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T. |
| 臺大學術典藏 |
2020-12-16T07:21:49Z |
Newborn screening for severe combined immunodeficiency in Taiwan
|
Chien Y.-H.;Yu H.-H.;Lee N.-C.;Ho H.-C.;Kao S.-M.;Meng-Yao Lu;Jaing T.-H.;Lee W.-I.;Chang K.-W.;Shieh C.-C.;Chen J.-S.;Chiang S.-C.;Liu C.-C.;Hwu W.-L.; Chien Y.-H.; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; MENG-YAO LU; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T09:01:15Z |
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.;Chun-Wei Lu;Lin M.-T.;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.; CHUN-WEI LU; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H. |
| 臺大學術典藏 |
2020-12-09T05:58:48Z |
Neonatal type of nonketotic hyperglycinemia
|
Frank Leigh Lu;Wang P.-J.;Hwu W.-L.;Tsou Yau K.-I.;Wang T.-R.; FRANK LEIGH LU; Wang P.-J.; Hwu W.-L.; Tsou Yau K.-I.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-09T02:07:52Z |
Long-term outcome for Down syndrome patients with hematopoietic disorders
|
MENG-JU LI; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T. |
| 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 |
2020-12-09T01:38:42Z |
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 |
2020-12-09T01:38:40Z |
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 |
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. |
| 臺大學術典藏 |
2020-12-09T01:38:34Z |
Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease
|
Chien Y.-H.;Ni-Chung Lee;Tsai F.-J.;Chao M.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai F.-J.; Chao M.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:34Z |
Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints
|
Ni-Chung Lee;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:33Z |
Rapid progressive course of later-onset Pompe disease in Chinese patients
|
Yang C.-C.;Chien Y.-H.;Ni-Chung Lee;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Hwu W.-L.; Yang C.-C.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L. |
