Detalhe da pesquisa
1.
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Mol Genet Metab
; 142(1): 108455, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531184
2.
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Am J Med Genet A
; 191(3): 842-845, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495139
3.
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
J Inherit Metab Dis
; 46(6): 1159-1169, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747296
4.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
5.
Locoregional delivery of CAR-T cells in the clinic.
Pharmacol Res
; 182: 106329, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35772645
6.
The Association of Preoperative Magnetic Resonance Imaging (MRI) With Surgical Management in Patients With Early-Stage Breast Cancer.
J Surg Res
; 280: 114-122, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964483
7.
ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Am J Hum Genet
; 102(6): 1158-1168, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861105
8.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
; 22(6): 1108-1118, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32089546
9.
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Mol Genet Metab
; 129(2): 106-110, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31753749
10.
3'-Modification stabilizes mRNA and increases translation in cells.
Bioorg Med Chem Lett
; 28(14): 2451-2453, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907393
11.
Emergent Cardiopulmonary Bypass during Cardiac Surgery.
J Extra Corpor Technol
; 47(4): 245-50, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834290
12.
Comprehensive evaluation of canonical versus Dicer-substrate siRNA in vitro and in vivo.
RNA
; 18(3): 557-68, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294662
13.
Mir-290-295 deficiency in mice results in partially penetrant embryonic lethality and germ cell defects.
Proc Natl Acad Sci U S A
; 108(34): 14163-8, 2011 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21844366
14.
Body integrity identity disorder beyond amputation: consent and liberty.
HEC Forum
; 26(3): 225-36, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25108391
15.
National HIV and HCV Screening Rates for Hospitalized People who Use Drugs Are Suboptimal and Heterogeneous Across 11 US Hospitals.
Open Forum Infect Dis
; 11(5): ofae204, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746950
16.
Transitioning from Medicaid to private health insurance: informing public and private sector outreach.
Front Health Serv
; 3: 1166034, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37720845
17.
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
Genet Med
; 14(1): 135-42, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237443
18.
Intolerant baboons avoid observer proximity, creating biased inter-individual association patterns.
Sci Rep
; 12(1): 8077, 2022 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577907
19.
The impact of fresh produce specifications on the Australian food and nutrition system: a case study of the north Queensland banana industry.
Public Health Nutr
; 14(8): 1489-95, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21324222
20.
Avoiding institutional outcomes for older adults living with disability: the use of community-based aged care supports.
J Intellect Dev Disabil
; 36(3): 175-83, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21843032