Detalhe da pesquisa
1.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Hum Mol Genet
; 32(17): 2717-2734, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369025
2.
Shifting landscapes of human MTHFR missense-variant effects.
Am J Hum Genet
; 108(7): 1283-1300, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214447
3.
Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria.
J Inherit Metab Dis
; 46(3): 421-435, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371683
4.
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Hum Genet
; 141(7): 1253-1267, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796408
5.
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Neuropediatrics
; 49(2): 154-157, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29401530
6.
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Hum Mutat
; 38(8): 988-1001, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497574
7.
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
J Inherit Metab Dis
; 39(5): 733-741, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342130
8.
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Hum Mutat
; 36(6): 611-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736335
9.
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.
Eur J Pediatr
; 174(1): 105-12, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25277362
10.
Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase.
Nat Commun
; 15(1): 3248, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622112
11.
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Mol Genet Metab
; 109(3): 289-95, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23680354
12.
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Nat Metab
; 5(1): 80-95, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36717752
13.
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Mol Genet Metab
; 105(4): 602-6, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22264772
14.
Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain.
Biochimie
; 183: 100-107, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33476699
15.
Sitosterolemia-10 years observation in two sisters.
JIMD Rep
; 48(1): 4-10, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392106
16.
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Biochim Biophys Acta Mol Basis Dis
; 1865(6): 1265-1272, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30682498
17.
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet J Rare Dis
; 7: 31, 2012 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22642865