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1.
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.
Int J Med Sci
; 21(1): 8-18, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38164354
2.
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.
J Med Genet
; 60(5): 430-439, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36137614
3.
Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: A single-centre cross-sectional study.
Neurourol Urodyn
; 41(5): 1177-1184, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35481613
4.
Safety and long-term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients.
Pediatr Transplant
; 26(4): e14228, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35037342
5.
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
Am J Hematol
; 96(5): 545-551, 2021 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33606887
6.
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
J Hum Genet
; 65(7): 619-625, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32246049
7.
Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.
Am J Med Genet A
; 182(4): 721-729, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31953985
8.
Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
Clin Chem
; 63(7): 1271-1277, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28450385
9.
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
BMC Neurol
; 17(1): 25, 2017 Feb 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28166746
10.
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
J Pediatr
; 169: 174-80.e1, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26685070
11.
The epidemiology and prognostic factors of mortality in critically ill children with acute kidney injury in Taiwan.
Kidney Int
; 87(3): 632-9, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25252027
12.
A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
Am J Med Genet A
; 164A(1): 54-61, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24243590
13.
A 10-year population-based nationwide descriptive analysis of pediatric emergency care.
BMC Pediatr
; 14: 100, 2014 Apr 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-24720913
14.
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay.
Mol Genet Metab Rep
; 39: 101072, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38559322
15.
Early detection of laryngeal cleft in infants by novel technique of flexible endoscopy with sustained pharyngeal inflation.
Pediatr Pulmonol
; 57(9): 2122-2127, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35596199
16.
Flexible Endoscopy With Non-invasive Ventilation Enables Clinicians to Assess and Manage Infants With Severe Bronchopulmonary Dysplasia.
Front Pediatr
; 10: 837329, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35515350
17.
Airway abnormalities and pulmonary complications in long-term treated late-onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy.
Pediatr Pulmonol
; 57(1): 185-192, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34647686
18.
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy.
Mol Genet Metab Rep
; 33: 100937, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36393898
19.
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature.
Mol Genet Metab Rep
; 29: 100819, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34815942
20.
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Orphanet J Rare Dis
; 16(1): 348, 2021 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34353347