Detalhe da pesquisa
1.
Inborn errors of metabolism refuse to stay-at-home: Experiences of a state-wide biochemical genetics service during the COVID-19 pandemic.
J Paediatr Child Health
; 59(2): 247-252, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36422466
2.
Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84.
FASEB J
; 33(11): 12264-12276, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31415180
3.
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(12): 1499-1507, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459394
4.
Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism.
J Paediatr Child Health
; 57(10): 1703-1706, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586825
5.
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
Mol Genet Metab
; 108(2): 145-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23318145
6.
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.
Hepatology
; 56(1): 49-56, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22318926
7.
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Mol Genet Metab
; 105(3): 519-21, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22227323
8.
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
Mol Genet Metab Rep
; 31: 100856, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782603
9.
Individual responses to chemotherapy-induced oxidative stress.
Breast Cancer Res Treat
; 125(2): 583-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20830514
10.
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.
Clin Chem
; 57(10): 1444-51, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21859904
11.
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
Muscle Nerve
; 43(5): 665-70, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21484825
12.
Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry.
Anal Biochem
; 402(2): 191-3, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20361921
13.
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
JIMD Rep
; 19: 67-73, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25681082
14.
Involvement of calcitonin gene-related peptide and receptor component protein in experimental autoimmune encephalomyelitis.
J Neuroimmunol
; 271(1-2): 18-29, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24746422
15.
Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.
Ann Epidemiol
; 22(12): 892-4, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063134
16.
Urinary biomarkers of oxidative status in a clinical model of oxidative assault.
Cancer Epidemiol Biomarkers Prev
; 19(6): 1506-10, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20501773
17.
Overexpression and purification of human calcitonin gene-related peptide-receptor component protein in Escherichia coli.
Protein Expr Purif
; 52(1): 167-74, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17067815
18.
Effects of specific zidovudine resistance mutations and substrate structure on nucleotide-dependent primer unblocking by human immunodeficiency virus type 1 reverse transcriptase.
Antimicrob Agents Chemother
; 46(5): 1540-5, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11959594