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机构 日期 题名 作者
臺大學術典藏 2020-12-28T08:14:40Z Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency Chang M.-H.; Chiu P.-C.; Huang Y.-T.; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Chen H.-W.; Chen H.-L.; YEN-HSUAN NI; Chen H.-W.;Chen H.-L.;Yen-Hsuan Ni;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.
臺大學術典藏 2020-12-24T06:17:12Z Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency Kobayashi K.; YIN-HSIU CHIEN; Lee N.-C.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:07Z 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.; YIN-HSIU CHIEN; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏 2020-12-24T06:16:58Z Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening Huang A.-C.; Hwu W.-L.; Chiu P.-C.; Lin S.-J.; Chen C.-A.; YIN-HSIU CHIEN; Tang N.L.-S.; Lee N.-C.
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 2020-12-24T06:16:38Z Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan Chiu Y.-H.; Liu Y.-N.; Liao W.-L.; Chang Y.-C.; Lin S.-P.; Hsu C.-C.; Chiu P.-C.; Niu D.-M.; Wang C.-H.; Ke Y.-Y.; YIN-HSIU CHIEN; Hsiao K.-J.; Liu T.-T.
臺大學術典藏 2020-12-24T06:16:33Z 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency YIN-HSIU CHIEN; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏 2020-12-24T06:16:31Z Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏 2020-12-24T06:16:24Z Congenital generalized lipodystrophy in Taiwan Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏 2020-12-24T06:16:19Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Hsieh W.-S.; Lin S.-P.; Tsai I.-J.; Fan P.-C.; Tsao P.-N.; Chou H.-C.; Chen N.-Q.; Wu E.-T.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Chen T.-F.

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