Log InRegister
Quick Links : The Mindat ManualThe Rock H. Currier Digital LibraryMindat Newsletter [Free Download]
Home PageAbout MindatThe Mindat ManualHistory of MindatCopyright StatusWho We AreContact UsAdvertise on Mindat
Donate to MindatCorporate SponsorshipSponsor a PageSponsored PagesMindat AdvertisersAdvertise on Mindat
Learning CenterWhat is a mineral?The most common minerals on earthInformation for EducatorsMindat ArticlesThe ElementsThe Rock H. Currier Digital LibraryGeologic Time
Minerals by PropertiesMinerals by ChemistryMineral Visual ExplorerAdvanced Locality SearchRandom MineralRandom LocalitySearch by minIDLocalities Near MeSearch ArticlesSearch GlossaryMore Search Options
Search For:
Mineral Name:
Locality Name:
Keyword(s):
 
The Mindat ManualAdd a New PhotoRate PhotosLocality Edit ReportCoordinate Completion ReportAdd Glossary Item
Mining CompaniesStatisticsUsersMineral MuseumsClubs & OrganizationsMineral Shows & EventsThe Mindat DirectoryDevice SettingsThe Mineral QuizTime Machine
Photo SearchPhoto GalleriesSearch by ColorPhoto Colour ExplorerNew Photos TodayNew Photos YesterdayMembers' Photo GalleriesPast Photo of the Day GalleryPhotography

Serrano-Gonzalo, Irene; Bauza, Francisco; Lopez de Frutos, Laura; Arevalo-Vargas, Isidro; Roca-Espiau, Mercedes; Andrade-Campos, Marcio; Valero-Tena, Esther; Roca-Esteve, Sonia; Iniguez, David; Giraldo, Pilar (2025) Clinical Variability and Genotype–Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010088

Advanced
   -   Only viewable:
Reference TypeJournal (article/letter/editorial)
TitleClinical Variability and Genotype–Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes
JournalInternational Journal of Molecular Sciences
AuthorsSerrano-Gonzalo, IreneAuthor
Bauza, FranciscoAuthor
Lopez de Frutos, LauraAuthor
Arevalo-Vargas, IsidroAuthor
Roca-Espiau, MercedesAuthor
Andrade-Campos, MarcioAuthor
Valero-Tena, EstherAuthor
Roca-Esteve, SoniaAuthor
Iniguez, DavidAuthor
Giraldo, PilarAuthor
Year2025 (October 16)Volume26
Issue20
PublisherMDPI AG
DOIdoi:10.3390/ijms262010088Search in ResearchGate
Generate Citation Formats
Mindat Ref. ID19086725Long-form Identifiermindat:1:5:19086725:8
GUID0
Full ReferenceSerrano-Gonzalo, Irene; Bauza, Francisco; Lopez de Frutos, Laura; Arevalo-Vargas, Isidro; Roca-Espiau, Mercedes; Andrade-Campos, Marcio; Valero-Tena, Esther; Roca-Esteve, Sonia; Iniguez, David; Giraldo, Pilar (2025) Clinical Variability and Genotype–Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010088
Plain TextSerrano-Gonzalo, Irene; Bauza, Francisco; Lopez de Frutos, Laura; Arevalo-Vargas, Isidro; Roca-Espiau, Mercedes; Andrade-Campos, Marcio; Valero-Tena, Esther; Roca-Esteve, Sonia; Iniguez, David; Giraldo, Pilar (2025) Clinical Variability and Genotype–Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010088
In(2025, October) International Journal of Molecular Sciences Vol. 26 (20). MDPI AG

References Listed

These are the references the publisher has listed as being connected to the article. Please check the article itself for the full list of references which may differ. Not all references are currently linkable within the Digital Library.

Not Yet Imported: - journal-article : 10.1080/10245332.2016.1240391

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Mistry (2012) Clin. Adv. Hematol. Oncol. H&O Disease state awareness in Gaucher disease: A Q&A expert roundtable discussion 10, S1
Dimitriou (2020) Mol. Genet. Metab. Rep. Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece 24, 100614
Not Yet Imported: Journal of Inherited Metabolic Disease - journal-article : 10.1007/s10545-008-0868-z

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1089/gte.1997.1.5

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1186/1750-1172-7-17

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: Human Mutation - journal-article : 10.1002/humu.20676

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1002/humu.23611

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1002/cpz1.696

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1039/D2MO00004K

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.3389/fgene.2021.684067

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1186/s13023-020-01520-7

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Hurvitz, N., Dinur, T., Revel-Vilk, S., Agus, S., Berg, M., Zimran, A., and Ilan, Y. (2024). A Feasibility Open-Labeled Clinical Trial Using a Second-Generation Artificial-Intelligence-Based Therapeutic Regimen in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy. J. Clin. Med., 13.
Not Yet Imported: - journal-article : 10.3389/fmed.2023.1098472

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.7554/eLife.87537

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1001/archinte.160.18.2835

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Elstein, D., Belmatoug, N., Bembi, B., Deegan, P., Fernandez-Sasso, D., Giraldo, P., Göker-Alpan, Ö., Hughes, D., Lau, H., and Lukina, E. (2024). Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry. J. Clin. Med., 13.
Not Yet Imported: - journal-article : 10.3390/jcm8101662

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: Frontiers in Genetics - journal-article : 10.3389/fgene.2023.1258083

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.3389/fmolb.2023.1184748

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Tenenbaum (2024) J. Clin. Epidemiol. A machine learning model for early diagnosis of type 1 Gaucher disease using real-life data 175, 111517
Not Yet Imported: Orphanet Journal of Rare Diseases - journal-article : 10.1186/s13023-023-02868-2

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1016/j.ymgme.2004.08.015

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Grabowski (2025) Mol. Genet. Metab. Challenges in Gaucher disease: Perspectives from an expert panel 145, 109074
Vallejo (2015) Rev. Colomb. Radiol. Normal Development and Maturation of Bone Marrow. Assessment by Magnetic Resonance Imaging 26, 4206
Not Yet Imported: - journal-article : 10.1111/bjh.12335

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: Journal of Movement Disorders - journal-article : 10.14802/jmd.23023

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1007/s10545-012-9527-5

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Rossi (2025) Mov. Disord. Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review 40, 605
Not Yet Imported: Journal of Human Genetics - journal-article : 10.1007/s10038-007-0135-4

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: Journal of Clinical Investigation - journal-article : 10.1172/JCI117084

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1182/blood-2003-05-1612

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1111/j.1471-4159.1982.tb07950.x

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1515/cclm-2019-0949

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: - journal-article : 10.1016/j.ejrad.2006.11.024

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Not Yet Imported: Quantitative Imaging in Medicine and Surgery - journal-article : 10.21037/qims-21-1191

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
Porter, J.L., and Varacallo, M. (2022, April 07). Osteoporosis, Available online: https://www.ncbi.nlm.nih.gov/books/NBK441901/.
Not Yet Imported: Orphanet Journal of Rare Diseases - journal-article : 10.1186/s13023-017-0592-6

If you would like this item imported into the Digital Library, please contact us quoting Journal ID
R Core Team (2018). R: A Language and Environment for Statistical Computing, R Foundation for Statistical Computing.
Not Yet Imported: - book-chapter : 10.1007/978-3-319-24277-4_9

If you would like this item imported into the Digital Library, please contact us quoting Book ID 9783319242750
Therneau, T., and Atkinson, B. (R Package, 2019). R Package, rpart: Recursive Partitioning and Regression Trees.
Bishop, C.M. (2006). Pattern Recognition and Machine Learning, Springer.
Kohavi (1995) IJCAI A study of cross-validation and bootstrap for accuracy estimation and model selection 14, 1137


See Also

These are possibly similar items as determined by title/reference text matching only.

 
and/or  
Mindat.org® is an outreach project of the Hudson Institute of Mineralogy, a 501(c)(3) not-for-profit organization. Mindat® and mindat.org® are registered trademarks of the Hudson Institute of Mineralogy.
Copyright © mindat.org and the Hudson Institute of Mineralogy 1993-2026, except where stated. Most political location boundaries are © OpenStreetMap contributors. Mindat.org relies on the contributions of thousands of members and supporters. Founded in 2000 by Jolyon Ralph and Ida Chau.
To cite: Ralph, J., Von Bargen, D., Martynov, P., Zhang, J., Que, X., Prabhu, A., Morrison, S. M., Li, W., Chen, W., & Ma, X. (2025). Mindat.org: The open access mineralogy database to accelerate data-intensive geoscience research. American Mineralogist, 110(6), 833–844. doi:10.2138/am-2024-9486.
Privacy Policy - Terms & Conditions - Contact Us / DMCA issues - Report a bug/vulnerability Current server date and time: June 6, 2026 17:25:27
Go to top of page