Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

9 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Sampayo-Cordero M, Miguel-Huguet B, Pardo-Mateos A, Malfettone A, Pérez-García J, Llombart-Cussac A, Cortés J, Moltó-Abad M, Muñoz-Delgado C, Pérez-Quintana M, Pérez-López J. Sampayo-Cordero M, et al. Among authors: munoz delgado c. Orphanet J Rare Dis. 2019 Oct 21;14(1):230. doi: 10.1186/s13023-019-1202-6. Orphanet J Rare Dis. 2019. PMID: 31639024 Free PMC article.
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Pérez-López J, Moltó-Abad M, Muñoz-Delgado C, Morales-Conejo M, Ceberio-Hualde L, Del Toro M. Pérez-López J, et al. Among authors: munoz delgado c. Mol Genet Metab. 2018 Jul;124(3):216-227. doi: 10.1016/j.ymgme.2018.04.013. Epub 2018 Apr 30. Mol Genet Metab. 2018. PMID: 29801985
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.
Sampayo-Cordero M, Miguel-Huguet B, Pardo-Mateos A, Moltó-Abad M, Muñoz-Delgado C, Pérez-López J. Sampayo-Cordero M, et al. Among authors: munoz delgado c. Mol Genet Metab. 2018 Feb;123(2):69-75. doi: 10.1016/j.ymgme.2018.01.002. Epub 2018 Jan 5. Mol Genet Metab. 2018. PMID: 29336994 Review.
Heart valve disease in Hurler-Scheie syndrome.
García Del Rey MDC, Castrodeza J, Pinto Á, Espinosa Castro MÁ, Muñoz Delgado C, Fernández-Avilés F. García Del Rey MDC, et al. Among authors: munoz delgado c. Cardiol J. 2022;29(5):875-877. doi: 10.5603/CJ.a2022.0066. Epub 2022 Jul 12. Cardiol J. 2022. PMID: 35818796 Free PMC article. No abstract available.
Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.
Villarrubia J, Morales M, Ceberio L, Vitoria I, Bellusci M, Quiñones I, Peña L, Ruiz de Valbuena M, O'Callaghan M; en representación del grupo de estudio PREVASMD. Villarrubia J, et al. Rev Clin Esp (Barc). 2024 Nov 28:S2254-8874(24)00153-X. doi: 10.1016/j.rceng.2024.11.007. Online ahead of print. Rev Clin Esp (Barc). 2024. PMID: 39613101
Women with Gaucher Disease.
Meijon-Ortigueira MDM, Solares I, Muñoz-Delgado C, Stanescu S, Morado M, Pascual-Izquierdo C, Villalon Blanco L, Belanger Quintana A, Menéndez-Conde CP, Morales-Conejo M, Villarrubia-Espinosa J. Meijon-Ortigueira MDM, et al. Among authors: munoz delgado c. Biomedicines. 2024 Mar 5;12(3):579. doi: 10.3390/biomedicines12030579. Biomedicines. 2024. PMID: 38540192 Free PMC article. Review.