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.
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Genet Med
; 25(2): 100328, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542086
4.
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
5.
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
6.
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
7.
Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Mov Disord
; 38(12): 2217-2229, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752895
8.
The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.
Pediatr Res
; 94(3): 1151-1157, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37029238
9.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266255
10.
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
11.
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
12.
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
13.
Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
J Formos Med Assoc
; 122(2): 106-112, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155706
14.
Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome.
J Clin Immunol
; 42(8): 1721-1729, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35925483
15.
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
16.
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
17.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
J Inherit Metab Dis
; 45(4): 848-861, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460084
18.
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
19.
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
20.
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