Detalhe da pesquisa
1.
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Mol Genet Metab
; 142(1): 108345, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38387306
2.
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Mol Genet Metab
; 140(3): 107670, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37542766
3.
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
J Inherit Metab Dis
; 44(3): 521-533, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33368379
4.
T cell activation leads to protein kinase C theta-dependent inhibition of TGF-beta signaling.
J Immunol
; 185(3): 1568-76, 2010 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20592275
5.
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?
Orphanet J Rare Dis
; 14(1): 156, 2019 06 27.
Artigo
Inglês
| MEDLINE | ID: mdl-31248428
6.
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.
Eur J Hum Genet
; 25(6): 775-778, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28378817
7.
Synthesis of disaccharides derived from heparin and evaluation of effects on endothelial cell growth and on binding of heparin to FGF-2.
Carbohydr Res
; 339(14): 2343-54, 2004 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-15388349
8.
Synthesis of a glucuronic acid and glucose conjugate library and evaluation of effects on endothelial cell growth.
Carbohydr Res
; 339(11): 1873-87, 2004 Aug 02.
Artigo
Inglês
| MEDLINE | ID: mdl-15261580
9.
Identification of novel inhibitors of fibroblast growth factor (FGF-2) binding to heparin and endothelial cell survival from a structurally diverse carbohybrid library.
Bioorg Med Chem Lett
; 12(22): 3287-90, 2002 Nov 18.
Artigo
Inglês
| MEDLINE | ID: mdl-12392734