Detalhe da pesquisa
1.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell;
142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20637498
2.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Mol Genet Metab;
142(3): 108511, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38878498
3.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab;
139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37348148
4.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Cell Mol Life Sci;
79(6): 305, 2022 May 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35593933
5.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab;
133(4): 397-399, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34140212
6.
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
7.
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.
BMC Pediatr;
21(1): 146, 2021 03 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33773571
8.
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria.
Medicina (Kaunas);
57(2)2021 Feb 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33540566
9.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Genet Med;
22(6): 1102-1107, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32103184
10.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mol Genet Metab;
131(3): 285-288, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33004274
11.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis;
43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32369189
12.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis;
42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30746764
13.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis;
42(1): 5-28, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30740725
14.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab;
139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37453860
15.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis;
41(4): 743-744, 2018 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29330779
16.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis;
41(4): 741-742, 2018 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29234995
17.
Difficulties in the dietary management of a girl with two diseases requiring a special diet.
Dev Period Med;
22(3): 225-228, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30281517
18.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med;
370(6): 533-42, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24499211
19.
Oral D-galactose supplementation in PGM1-CDG.
Genet Med;
19(11): 1226-1235, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28617415
20.
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
J Pediatr;
175: 130-136.e8, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27206562