Detalhe da pesquisa
1.
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Int J Mol Sci
; 25(8)2024 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38673884
2.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Int J Mol Sci
; 22(24)2021 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34948281
3.
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.
Mol Genet Metab
; 121(2): 138-149, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28410878
4.
Special Issue "Diagnosis and Treatment of Rare Diseases".
J Clin Med
; 13(9)2024 Apr 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38731103
5.
Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory.
Tob Induc Dis
; 222024.
Artigo
Inglês
| MEDLINE | ID: mdl-38362270
6.
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
Transl Res
; 269: 47-63, 2024 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-38395389
7.
The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations.
J Investig Med
; 71(2): 149-158, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36647337
8.
The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria.
Med Clin (Barc)
; 160(9): 385-391, 2023 05 12.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-36628809
9.
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.
J Clin Med
; 12(7)2023 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37048678
10.
The value of waist circumference as a preditor of cardiovascular risk in adult patients with classic phenylketonuria.
Med Clin (Barc)
; 161(11): 470-475, 2023 12 07.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-37541939
11.
Implications of Inflammatory and Oxidative Stress Markers in the Attenuation of Nocturnal Blood Pressure Dipping.
J Clin Med
; 12(4)2023 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36836178
12.
Assessment of Oxidative Stress Markers in Hypertensive Patients under the Use of Renin-Angiotensin-Aldosterone Blockers.
Antioxidants (Basel)
; 12(4)2023 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37107177
13.
Health-related quality of life in a european sample of adults with early-treated classical PKU.
Orphanet J Rare Dis
; 18(1): 300, 2023 09 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37740225
14.
Should we suspect primary aldosteronism in patients with hypokalaemic rhabdomyolysis? A systematic review.
Front Endocrinol (Lausanne)
; 14: 1257078, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37810894
15.
Are Differences in Inflammatory Markers between Patients with and without Hypertension-Mediated Organ Damage Influenced by Circadian Blood Pressure Abnormalities?
J Clin Med
; 11(5)2022 Feb 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35268342
16.
Assessment of oxidative stress markers in elderly patients with SARS-CoV-2 infection and potential prognostic implications in the medium and long term.
PLoS One
; 17(10): e0268871, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36201465
17.
Correlation between Blunted Nocturnal Decrease in Diastolic Blood Pressure and Oxidative Stress: An Observational Study.
Antioxidants (Basel)
; 11(12)2022 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36552638
18.
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
J Clin Med
; 11(10)2022 May 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35628876
19.
Familial partial lipodystrophy syndromes.
Presse Med
; 50(3): 104071, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34610417
20.
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
J Clin Med
; 10(7)2021 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33916074