Detalhe da pesquisa
1.
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
J Inherit Metab Dis
; 44(3): 777-786, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33089527
2.
Exome Sequencing and the Management of Neurometabolic Disorders.
N Engl J Med
; 374(23): 2246-55, 2016 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27276562
3.
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
J Biol Chem
; 292(28): 11980-11991, 2017 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28572511
4.
High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation.
J Sep Sci
; 41(13): 2808-2818, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701302
5.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
J Biol Chem
; 291(39): 20563-73, 2016 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519416
6.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24499211
7.
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
J Inherit Metab Dis
; 40(2): 297-306, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27743313
8.
Analysis of genetic variants of transferrin in human serum after desialylation by capillary zone electrophoresis and capillary isoelectric focusing.
J Sep Sci
; 40(11): 2488-2497, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371325
9.
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Nucleic Acids Res
; 43(9): 4627-39, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25878036
10.
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Hum Mutat
; 37(5): 427-38, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26872964
11.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
; 39(1): 115-24, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025547
12.
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
13.
Hepatic glycogen storage disorders: what have we learned in recent years?
Curr Opin Clin Nutr Metab Care
; 18(4): 415-21, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001652
14.
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Hum Mol Genet
; 21(6): 1410-8, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22156578
15.
Characterization of functional domains of the cblD (MMADHC) gene product.
J Inherit Metab Dis
; 37(5): 841-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24722857
16.
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
17.
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
Hum Mol Genet
; 18(22): 4350-6, 2009 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19690088
18.
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?
JIMD Rep
; 57(1): 58-66, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473341
19.
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Front Neurol
; 11: 516799, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33192963
20.
Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors.
Cells
; 9(12)2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33287330