臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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Institution	Date	Title	Author
臺大學術典藏	2020-12-24T06:16:45Z	Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests	Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:45Z	Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin	Wang J.; Cui H.; Lee N.-C.; Hwu W.-L.; YIN-HSIU CHIEN; Craigen W.J.; Wong L.-J.; Zhang V.W.
臺大學術典藏	2020-12-24T06:16:43Z	Lung toxicity of hydroxypropyl-β-cyclodextrin infusion	Lee N.-C.; Hwu W.-L.; Yang C.-Y.; Shieh Y.-D.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:43Z	Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation	Chen Y.-C.; YIN-HSIU CHIEN; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:42Z	Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation	YIN-HSIU CHIEN; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:42Z	Pompe disease: Early diagnosis and early treatment make a difference	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:41Z	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.; Wu E.-T.; YIN-HSIU CHIEN; Tsau Y.-K.
臺大學術典藏	2020-12-24T06:16:41Z	Outcome of early-treated type III Gaucher disease patients	Hwu W.-L.; Shun C.-T.; Chao M.-C.; Leung J.H.; Lee N.-C.; YIN-HSIU CHIEN; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.
臺大學術典藏	2020-12-24T06:16:41Z	AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients	Hwu W.-L.; Lee N.-C.; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:40Z	Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases	Hsu L.-W.; Wang S.-F.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.

Showing items 236-245 of 770 (77 Page(s) Totally)
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