Detalhe da pesquisa
1.
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
J Inherit Metab Dis;
46(6): 1159-1169, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37747296
2.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis;
46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36651831
3.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet;
2022 Jul 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35790351
4.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
J Inherit Metab Dis;
45(5): 969-980, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35716054
5.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet;
103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30290151
6.
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
J Inherit Metab Dis;
44(4): 987-1000, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33583022
7.
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
J Inherit Metab Dis;
44(4): 1001-1012, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33734437
8.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis;
44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32681750
9.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain;
143(4): 1114-1126, 2020 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32293671
10.
Laboratory monitoring of patients with hereditary tyrosinemia type I.
Mol Genet Metab;
130(4): 247-254, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32546364
11.
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Mol Genet Metab;
124(1): 82-86, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29550355
12.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet;
95(1): 96-107, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24931394
13.
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.
Clin Chem;
62(9): 1248-54, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27440509
14.
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Mol Genet Metab;
110(3): 345-351, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23856421
15.
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Orphanet J Rare Dis;
16(1): 102, 2021 02 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33632285
16.
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
Front Genet;
12: 777731, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34659374
17.
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
Front Genet;
12: 744884, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34567092
18.
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.
Clin Chem;
56(11): 1686-95, 2010 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20807894
19.
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Int J Neonatal Screen;
6(2)2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32802993
20.
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.
Clin Case Rep;
7(4): 632-637, 2019 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30997052