Detalhe da pesquisa
1.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet
; 32(5): 732-744, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067040
2.
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
Int J Mol Sci
; 24(5)2023 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901952
3.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
; 104(6): 1127-1138, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155284
4.
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(4): 769-783, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394426
5.
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Hum Mutat
; 42(11): 1384-1398, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387910
6.
Respiratory Syncytial Virus-Associated Hospitalizations Among Adults With Chronic Medical Conditions.
Clin Infect Dis
; 73(1): e158-e163, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531019
7.
Hemagglutinin and Neuraminidase Antibodies Are Induced in an Age- and Subtype-Dependent Manner after Influenza Virus Infection.
J Virol
; 94(7)2020 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31941786
8.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Mol Genet Metab
; 132(1): 27-37, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129689
9.
3D bioprinting of cardiac tissue: current challenges and perspectives.
J Mater Sci Mater Med
; 32(5): 54, 2021 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33956236
10.
Diagnostic Radiology Residency Assessment Tools: A Scoping Review.
Can Assoc Radiol J
; 72(4): 651-660, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33401932
11.
Risk of Severe Influenza Among Adults With Chronic Medical Conditions.
J Infect Dis
; 221(2): 183-190, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678990
12.
Influenza-Associated Outcomes Among Pregnant, Postpartum, and Nonpregnant Women of Reproductive Age.
J Infect Dis
; 219(12): 1893-1903, 2019 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690449
13.
Risk Factors and Attack Rates of Seasonal Influenza Infection: Results of the Southern Hemisphere Influenza and Vaccine Effectiveness Research and Surveillance (SHIVERS) Seroepidemiologic Cohort Study.
J Infect Dis
; 219(3): 347-357, 2019 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30016464
14.
Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
Mol Genet Metab
; 127(3): 207-211, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235216
15.
Hereditary ß-mannosidosis in a dog: Clinicopathological and molecular genetic characterization.
Mol Genet Metab
; 128(1-2): 137-143, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439511
16.
Respiratory syncytial virus hospitalisations among young children: a data linkage study.
Epidemiol Infect
; 147: e246, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31364578
17.
The usefulness of large sample size patient dose audits for optimisation of CT automatic exposure control (AEC) settings.
J Radiol Prot
; 39(3): 938-949, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31382249
18.
UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.
Clin Chem
; 64(12): 1772-1779, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201803
19.
4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to ß-galactosidase mutations: Improved synthesis and biological investigations.
Bioorg Med Chem
; 26(20): 5462-5469, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270003
20.
Injury epidemiology of tennis players at the 2011-2016 Australian Open Grand Slam.
Br J Sports Med
; 51(17): 1289-1294, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687543