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Showing items 241-265 of 770 (31 Page(s) Totally)
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Institution	Date	Title	Author
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.
臺大學術典藏	2020-12-24T06:16:40Z	Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease	Hwu W.-L.; Tsai F.-J.; Thurberg B.L.; Tsai Y.-J.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:39Z	Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector	Lee N.-C.; YIN-HSIU CHIEN; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:39Z	Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype	Lee D.-H.; Qiu W.-J.; Lee J.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:38Z	Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening	Young S.P.; Kishnani P.S.; Millington D.S.; Vaisnins A.E.; Zhang H.; YIN-HSIU CHIEN; Goldstein J.L.; Hwu W.-L.; Smith P.B.; Lee N.-C.; Chiang S.-C.; Tolun A.A.
臺大學術典藏	2020-12-24T06:16:38Z	Parental discussion of G6PD deficiency and child health: Implications for clinical practice	Erby L.A.H.; Huang A.; Roter D.L.; Guan Y.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:38Z	Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots	Chen P.-W.; Lee N.-C.; YIN-HSIU CHIEN; Wu J.-Y.; Wang P.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:37Z	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Tsai F.-J.; Chen C.-A.; Lee N.-C.; YIN-HSIU CHIEN; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:37Z	Incidence of severe combined immunodeficiency through newborn screening in a Chinese population	Yu H.-H.; Chang K.-L.; Chiang S.-C.; YIN-HSIU CHIEN; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:36Z	Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes	Raymond K.; Okano Y.; Muntau A.; Mayatepek E.; Lindner M.; Lykopoulou L.; Levy H.; Lachmann R.; Korman S.H.; Kim S.; YIN-HSIU CHIEN; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; Hwu W.-L.; James P.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J.
臺大學術典藏	2020-12-24T06:16:36Z	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	Lee P.-L.; Lu C.-J.; Wang T.-J.; Chu S.-Y.; Lin S.-J.; Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.
臺大學術典藏	2020-12-24T06:16:36Z	Congenital malformations in newborns - A challenge unmet for decades	Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:35Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:34Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	YIN-HSIU CHIEN; Tsai W.-H.; Tsai F.-J.; Lee N.-C.; Hwu W.-L.; Peng S.S.-F.
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	2020-12-24T06:16:32Z	Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease	Hwu W.-L.; YIN-HSIU CHIEN; Wen M.-S.; Song I.-W.; Chang C.-P.; Wang N.H.-H.; Chiang H.-L.; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.
臺大學術典藏	2020-12-24T06:16:32Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Chiu M.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Huang A.-C.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.
臺大學術典藏	2020-12-24T06:16:31Z	Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease	Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; YIN-HSIU CHIEN
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	2020-12-24T06:16:29Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	YIN-HSIU CHIEN; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:28Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Liu S.-Y.; Lee C.-T.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y.

Showing items 241-265 of 770 (31 Page(s) Totally)
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