Detalhe da pesquisa
1.
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
Mol Genet Metab
; 142(2): 108488, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735264
2.
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
J Inherit Metab Dis
; 46(1): 92-100, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214423
3.
Nuclear morphometry and chromatin texture changes in hepatocellular carcinoma samples may predict outcomes of liver transplanted patients.
BMC Gastroenterol
; 22(1): 189, 2022 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428184
4.
Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11.
Pediatr Dev Pathol
; 25(2): 174-179, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34428094
5.
Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment.
Blood Cells Mol Dis
; 90: 102591, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242856
6.
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Mol Genet Metab
; 131(4): 424-429, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187827
7.
Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines.
Blood Cells Mol Dis
; 74: 34-36, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446378
8.
Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.
Genes (Basel)
; 15(1)2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38255001
9.
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.
JIMD Rep
; 64(6): 424-433, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927489
10.
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Biomedicines
; 11(2)2023 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36830903
11.
Primary Mitochondrial Disorders in the Neonate.
Neoreviews
; 23(12): e796-e812, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450643
12.
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.
Front Pediatr
; 10: 944178, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245745
13.
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
Orphanet J Rare Dis
; 16(1): 20, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33413482
14.
Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1.
Autops Case Rep
; 11: e2021306, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34458174
15.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Eur J Med Genet
; 63(7): 103941, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32407885
16.
Liver involvement in patients with Gaucher disease types I and III.
Mol Genet Metab Rep
; 22: 100564, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099816
17.
Elastic Fibers Density: a New Parameter of Improvement of NAFLD in Bariatric Surgery Patients.
Obes Surg
; 30(10): 3839-3846, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451920
18.
The specific impact of uremic toxins upon cognitive domains: a review.
J Bras Nefrol
; 41(1): 103-111, 2019.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-30095142
19.
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
Mol Genet Metab Rep
; 21: 100544, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799121
20.
Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience
J. inborn errors metab. screen
; 10: e20210031, 2022. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1375768