Detalhe da pesquisa
1.
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
Arch Biochem Biophys
; 735: 109510, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608914
2.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
J Pediatr
; 231: 148-156, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340551
3.
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.
Mol Genet Metab
; 109(3): 276-81, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23707712
4.
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
5.
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
6.
Maturity-onset diabetes of the young in a large Portuguese cohort.
Acta Diabetol
; 60(1): 83-91, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36208343
7.
Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).
GE Port J Gastroenterol
; 29(4): 284-290, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979251
8.
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Mol Genet Genomic Med
; 8(11): e1451, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32931663
9.
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Mol Genet Genomic Med
; 7(5): e610, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30829006
10.
Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.
Mol Genet Genomic Med
; 2018 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749107
11.
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
World J Pediatr
; 13(4): 374-380, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28101780
12.
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.
JIMD Rep
; 26: 53-60, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26303611
13.
Prevalence of lysosomal storage diseases in Portugal.
Eur J Hum Genet
; 12(2): 87-92, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14685153
14.
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
Epilepsy Res
; 99(1-2): 187-90, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22154554