Detalhe da pesquisa
1.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Mol Genet Metab
; 137(1-2): 114-126, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36027720
2.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33325055
3.
Hepatic ANGPTL3 regulates adipose tissue energy homeostasis.
Proc Natl Acad Sci U S A
; 112(37): 11630-5, 2015 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26305978
4.
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.
Mov Disord Clin Pract
; 10(1): 109-114, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36698992
5.
Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.
JIMD Rep
; 64(6): 403-409, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37927481
6.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
bioRxiv
; 2023 Dec 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38168314
7.
Molecular basis for LDL receptor recognition by PCSK9.
Proc Natl Acad Sci U S A
; 105(6): 1820-5, 2008 Feb 12.
Artigo
Inglês
| MEDLINE | ID: mdl-18250299
8.
Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice.
J Clin Invest
; 116(11): 2995-3005, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17080197
9.
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Cell Rep
; 27(5): 1376-1386.e6, 2019 04 30.
Artigo
Inglês
| MEDLINE | ID: mdl-31042466
10.
Human promoter genomic composition demonstrates non-random groupings that reflect general cellular function.
BMC Bioinformatics
; 6: 259, 2005 Oct 18.
Artigo
Inglês
| MEDLINE | ID: mdl-16232321
11.
So Far, PCSK9 Inhibitors Work for All Heterozygous FH Patients.
Circ Cardiovasc Genet
; 8(6): 749-51, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26671969
12.
Antagonism of secreted PCSK9 increases low density lipoprotein receptor expression in HepG2 cells.
J Biol Chem
; 284(16): 10561-70, 2009 Apr 17.
Artigo
Inglês
| MEDLINE | ID: mdl-19224862
13.
Plasma PCSK9 preferentially reduces liver LDL receptors in mice.
J Lipid Res
; 49(6): 1303-11, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18354138
14.
Catalytic activity is not required for secreted PCSK9 to reduce low density lipoprotein receptors in HepG2 cells.
J Biol Chem
; 282(29): 20799-803, 2007 Jul 20.
Artigo
Inglês
| MEDLINE | ID: mdl-17537735
15.
Kinetic profiles of p300 occupancy in vivo predict common features of promoter structure and coactivator recruitment.
Proc Natl Acad Sci U S A
; 101(32): 11554-9, 2004 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-15286281