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1.
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Blood Cells Mol Dis;
98: 102704, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36265282
2.
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.
Mol Genet Metab;
123(2): 69-75, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29336994
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28410878
4.
The Nanotechnology-Based Approaches against Kirsten Rat Sarcoma-Mutated Cancers.
Pharmaceutics;
15(6)2023 Jun 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37376135
5.
Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease.
Wiley Interdiscip Rev Nanomed Nanobiotechnol;
13(3): e1684, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33314628
6.
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.
J Clin Med;
10(8)2021 Apr 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-33924567
7.
Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders.
J Extracell Vesicles;
10(5): e12058, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33738082
8.
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Orphanet J Rare Dis;
16(1): 464, 2021 11 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34732228
9.
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
Orphanet J Rare Dis;
14(1): 230, 2019 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31639024
10.
Acute telomere deprotection prevents ongoing BFB cycles and rampant instability in p16INK4a-deficient epithelial cells.
Oncotarget;
9(43): 27151-27170, 2018 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29930757
11.
Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation.
J Bone Miner Res;
32(7): 1575-1581, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28263001
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