Detalhe da pesquisa
1.
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Pediatr Res
; 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38052860
2.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040193
3.
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
4.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
J Pediatr
; 231: 148-156, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340551
5.
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
6.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
7.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet
; 98(2): 310-21, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833332
8.
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
9.
Renal involvement in PMM2-CDG, a mini-review.
Mol Genet Metab
; 123(3): 292-296, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29229467
10.
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?
J Inherit Metab Dis
; 46(1): 1-2, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36451346
11.
MAN1B1 deficiency: an unexpected CDG-II.
PLoS Genet
; 9(12): e1003989, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24348268
12.
Natural history of three late-diagnosed classic Galactosemia patients.
Mol Genet Metab Rep
; 38: 101057, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469096
13.
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Genes (Basel)
; 14(11)2023 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002933
14.
Diagnosis across a cohort of "atypical" atypical and complex parkinsonism.
Parkinsonism Relat Disord
; 111: 105408, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37105015
15.
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Endocr Metab Immune Disord Drug Targets
; 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711120
16.
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.
Endocr Metab Immune Disord Drug Targets
; 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711123
17.
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome.
Mol Genet Metab
; 107(4): 659-63, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23137570
18.
Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia.
J Med Cases
; 13(2): 56-60, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35317090
19.
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
Hum Mol Genet
; 18(17): 3244-56, 2009 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19494034
20.
Genotype-Phenotype Correlations in PMM2-CDG.
Genes (Basel)
; 12(11)2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828263