Detalhe da pesquisa
1.
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
J Hum Genet
; 59(3): 145-52, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24401910
2.
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Biochem Genet
; 52(9-10): 415-29, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24863100
3.
Comparing Strategies for Critical Congenital Heart Disease Newborn Screening.
Pediatrics
; 151(3)2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36815269
4.
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
J Hum Genet
; 57(2): 145-52, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237589
5.
Genome sequence of the repetitive-sequence-rich Mycoplasma fermentans strain M64.
J Bacteriol
; 193(16): 4302-3, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21642450
6.
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
J Hum Genet
; 55(9): 621-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20631720
7.
Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.
Ophthalmology
; 117(2): 392-6.e1, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19969356
8.
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
J Inherit Metab Dis
; 33(Suppl 2): S295-305, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20567911
9.
Long-term neurodevelopmental outcomes of significant neonatal jaundice in Taiwan from 2000-2003: a nationwide, population-based cohort study.
Sci Rep
; 10(1): 11374, 2020 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32647318
10.
Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program.
Clin Chim Acta
; 495: 271-277, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31022393
11.
Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan.
Data Brief
; 25: 104129, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294066
12.
Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.
Pathology
; 51(3): 274-280, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30853107
13.
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Arch Neurol
; 65(3): 387-92, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18332253
14.
Type II collagen gene variants and inherited osteonecrosis of the femoral head.
N Engl J Med
; 352(22): 2294-301, 2005 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-15930420
15.
Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.
Biochem Biophys Res Commun
; 373(4): 515-20, 2008 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18590700
16.
Outcomes of neonatal jaundice in Taiwan.
Arch Dis Child
; 103(10): 927-929, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29472193
17.
Construction and characterization of an expressed sequenced tag library for the mosquito vector Armigeres subalbatus.
BMC Genomics
; 8: 462, 2007 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-18088419
18.
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography.
Clin Chim Acta
; 453: 13-20, 2016 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26620954
19.
Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei.
PLoS One
; 11(4): e0153407, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27073996
20.
Inherited metabolic disorders: Quality management for laboratory diagnosis.
Clin Chim Acta
; 447: 1-7, 2015 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25970129