Detalhe da pesquisa
1.
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Hum Mutat
; 43(10): 1430-1442, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789514
2.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Clin Genet
; 102(1): 40-55, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388452
3.
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Int J Mol Sci
; 23(21)2022 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361642
4.
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Hum Mutat
; 41(7): 1329-1338, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333439
5.
Towards a Computational Approach for the Assessment of Compliance of ALCOA+ Principles in Pharma Industry.
Stud Health Technol Inform
; 294: 755-759, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35612198
6.
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
Nucleic Acid Ther
; 32(5): 378-390, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833796
7.
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
J Clin Med
; 11(10)2022 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35629059
8.
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Hum Mutat
; 30(11): 1558-66, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19760748
9.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Eur J Hum Genet
; 27(4): 556-562, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626930
10.
[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population]. / Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población española.
Med Clin (Barc)
; 131(3): 81-8, 2008 Jun 21.
Artigo
em Espanhol
| MEDLINE | ID: mdl-18590621
11.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Orphanet J Rare Dis
; 13(1): 125, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30041674
12.
Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology
J. inborn errors metab. screen
; 5: e160032, 2017. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090932
13.
Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem
; 43(1-2): 76-81, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19786003
14.
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
Am J Med Genet A
; 140(9): 987-97, 2006 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16575899
15.
Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población española / Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population
Med. clín (Ed. impr.)
; 131(3): 81-88, jun. 2008. tab
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-178290