Detalhe da pesquisa
1.
Gene therapy corrects the neurological deficits of mice with sialidosis.
Gene Ther
; 31(5-6): 263-272, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38321198
2.
Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease.
Genet Med
; 25(1): 27-36, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399131
3.
Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency.
Mol Genet Metab
; 140(1-2): 107687, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635029
4.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
5.
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
J Pediatr
; 258: 113408, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37019333
6.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
7.
Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease.
Bioorg Med Chem
; 78: 117129, 2023 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542959
8.
A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7.
J Pediatr Gastroenterol Nutr
; 76(4): 418-423, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36946999
9.
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.
Mol Ther
; 30(2): 509-518, 2022 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34763085
10.
Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease.
J Formos Med Assoc
; 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833114
11.
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.
Mol Genet Metab
; 136(4): 330-336, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35798653
12.
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
J Pediatr
; 244: 139-147.e2, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995642
13.
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan.
Neurol Sci
; 43(7): 4563-4566, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562557
14.
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review.
J Formos Med Assoc
; 121(4): 856-860, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35016835
15.
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.
J Formos Med Assoc
; 121(1 Pt 1): 218-226, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33775534
16.
The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis.
J Formos Med Assoc
; 121(12): 2574-2583, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821219
17.
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening.
Genet Med
; 23(2): 415-420, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033402
18.
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.
Mol Genet Metab
; 133(4): 335-344, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229967
19.
Diversity in heritable disorders of connective tissue at a single center.
Connect Tissue Res
; 62(5): 580-585, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32862725
20.
Biparental Inheritance of Mitochondrial DNA in Humans.
Proc Natl Acad Sci U S A
; 115(51): 13039-13044, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478036