Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Ann Neurol
; 85(3): 385-395, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635937
3.
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
Am J Med Genet A
; 173(8): 2246-2250, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574218
4.
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Neuropediatrics
; 44(5): 281-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23564319
5.
Determinants of the enzymatic activity and the subcellular localization of aspartate N-acetyltransferase.
Biochem J
; 441(1): 105-12, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21936773
6.
Enzymatic repair of Amadori products.
Amino Acids
; 42(4): 1143-50, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20967558
7.
Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment.
Front Neurol
; 13: 1063803, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36686537
8.
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Brain Commun
; 3(4): fcab256, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34805998
9.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
J Clin Invest
; 131(12)2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33945503
10.
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.
Biochem J
; 425(1): 127-36, 2009 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19807691
11.
Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
Clin Case Rep
; 8(6): 1010-1014, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32577254
12.
NAT6 acetylates the N-terminus of different forms of actin.
FEBS J
; 285(17): 3299-3316, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30028079
13.
Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
Int J Pediatr Otorhinolaryngol
; 104: 191-194, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29287866
14.
Identification of glucoselysine-6-phosphate deglycase, an enzyme involved in the metabolism of the fructation product glucoselysine.
Biochem J
; 392(Pt 2): 263-9, 2005 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16153181
15.
Unusual association between lysinuric protein intolerance and moyamoya vasculopathy.
Eur J Paediatr Neurol
; 20(5): 777-81, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27321952
16.
Two new cases of serine deficiency disorders treated with l-serine.
Eur J Paediatr Neurol
; 20(1): 53-60, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26610677
17.
Fructoselysine 3-epimerase, an enzyme involved in the metabolism of the unusual Amadori compound psicoselysine in Escherichia coli.
Biochem J
; 378(Pt 3): 1047-52, 2004 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14641112
18.
Fructosamine 3-kinase-related protein and deglycation in human erythrocytes.
Biochem J
; 382(Pt 1): 137-43, 2004 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15137908
19.
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.
PLoS One
; 10(3): e0119540, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25763823
20.
Identification of enzymes acting on alpha-glycated amino acids in Bacillus subtilis.
FEBS Lett
; 577(3): 469-72, 2004 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-15556630