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显示项目 201-250 / 512 (共11页)
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机构 日期 题名 作者
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 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 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 2020-12-24T03:22:35Z 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 2020-12-24T02:03:55Z Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia Chang K.-C.; Lin P.-H.; Su Y.-N.; Peng S.S.-F.; Lee N.-C.; HUNG-CHIEH CHOU; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.
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 2020-12-22T03:29:29Z 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.
臺大學術典藏 2020-12-21T01:58:15Z Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments Huang T.; Atwal P.S.; Wong L.-J.; PI-CHUAN FAN; Hwu W.-L.; Chien Y.-H.; 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.;Chien Y.-H.;Hwu W.-L.;Pi-Chuan Fan;Wong L.-J.;Atwal P.S.;Huang T.; 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.
臺大學術典藏 2020-12-21T01:58:11Z De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome Lee N.-C.; Kwok P.-Y.; Lin C.-L.; Hwu W.-L.; Kao H.-J.; Chiang H.-L.; Chen H.-H.; PI-CHUAN FAN; Tu Y.-F.; Chou Y.-Y.
臺大學術典藏 2020-12-21T01:08:41Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Weng W.-C.; JIA-FENG WU; Chien Y.-H.; Liu H.-M.; Tsai L.-P.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2020-12-18T06:22:27Z Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease Wang J.-K.; Hwu W.-L.; Chen L.-R.; Chen C.-A.; SHUENN-NAN CHIU; Chien Y.-H.; Lee N.-C.; Lin M.-T.; Chen L.-R.;Chen C.-A.;Shuenn-Nan Chiu;Chien Y.-H.;Lee N.-C.;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Wu M.-H.
臺大學術典藏 2020-12-18T05:28:48Z Glycogen Storage Disease Type Ib: The First Case in Taiwan Chien Y.-H.; Lee N.-C.; Lam C.-W.; Hwu W.-L.; HSIU-HAO CHANG; Hsiao H.-J.
臺大學術典藏 2020-12-18T05:28:40Z Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia Lu M.-Y.; Jou S.-T.; Li M.-J.; Yang Y.-L.; Lee N.-C.; HSIU-HAO CHANG; Lin K.-H.; Peng C.-T.; Lin D.-T.
臺大學術典藏 2020-12-18T05:28:40Z Long-term outcome for Down syndrome patients with hematopoietic disorders Lin D.-T.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; HSIU-HAO CHANG; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Li M.-J.
臺大學術典藏 2020-12-18T02:21:52Z Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy Wang S.-B.;Weng W.-C.;Lee N.-C.;Hwu W.-L.;Fan P.-C.;Wang-Tso Lee; Wang S.-B.; Weng W.-C.; Lee N.-C.; Hwu W.-L.; Fan P.-C.; WANG-TSO LEE
臺大學術典藏 2020-12-18T02:21:48Z Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia Wei S.-H.;Weng W.-C.;Lee N.-C.;Hwu W.-L.;Wang-Tso Lee; Wei S.-H.; Weng W.-C.; Lee N.-C.; Hwu W.-L.; WANG-TSO LEE
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 2020-12-17T02:28:30Z 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 2020-12-16T07:21:51Z Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia Li M.-J.; Yang Y.-L.; Lee N.-C.; Jou S.-T.; MENG-YAO LU; Chang H.-H.; Lin K.-H.; Peng C.-T.; Lin D.-T.
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 2020-12-16T02:26:04Z Brain development in infantile-onset pompe disease treated by enzyme replacement therapy Chien Y.-H.;Lee N.-C.;Peng S.-F.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Peng S.-F.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:04Z Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:02Z Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. Chien Y.H.;Lee N.C.;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Wuh-Liang Hwu; Chien Y.H.; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:01Z Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. Wuh-Liang Hwu;Chien Y.H.;Tang N.L.;Law L.K.;Lin C.Y.;Lee N.C.; WUH-LIANG HWU; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; Lee N.C.
臺大學術典藏 2020-12-16T02:25:58Z Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan Chien Y.-H.;Lee N.-C.;Wu S.-T.;Liou J.-J.;Chen H.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:56Z 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.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:56Z 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.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏 2020-12-16T02:25:55Z Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy Wang S.-B.;Weng W.-C.;Lee N.-C.;Wuh-Liang Hwu;Fan P.-C.;Lee W.-T.; Wang S.-B.; Weng W.-C.; Lee N.-C.; WUH-LIANG HWU; Fan P.-C.; Lee W.-T.
臺大學術典藏 2020-12-16T02:25:55Z Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review Yen T.-Y.;Wuh-Liang Hwu;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Lee N.-C.; Yen T.-Y.; WUH-LIANG HWU; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:54Z Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia Lee N.-C.;Chien Y.-H.;Peng S.-F.;Huang A.-C.;Liu T.-T.;Wu A.S.-H.;Chen L.-C.;Hsu L.-W.;Tseng S.-C.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU

显示项目 201-250 / 512 (共11页)
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