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
| Reference Type | Journal (article/letter/editorial) | ||
|---|---|---|---|
| Title | Clinical Variability and Genotype–Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes | ||
| Journal | International Journal of Molecular Sciences | ||
| Authors | Serrano-Gonzalo, Irene | Author | |
| Bauza, Francisco | Author | ||
| Lopez de Frutos, Laura | Author | ||
| Arevalo-Vargas, Isidro | Author | ||
| Roca-Espiau, Mercedes | Author | ||
| Andrade-Campos, Marcio | Author | ||
| Valero-Tena, Esther | Author | ||
| Roca-Esteve, Sonia | Author | ||
| Iniguez, David | Author | ||
| Giraldo, Pilar | Author | ||
| Year | 2025 (October 16) | Volume | 26 |
| Issue | 20 | ||
| Publisher | MDPI AG | ||
| DOI | doi:10.3390/ijms262010088Search in ResearchGate | ||
| Generate Citation Formats | |||
| Mindat Ref. ID | 19086725 | Long-form Identifier | mindat:1:5:19086725:8 |
| GUID | 0 | ||
| Full Reference | 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 | ||
| Plain Text | 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 | ||
| 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.
![]() | Koprivica, Vuk, Stone, Deborah L, Park, Joseph K., Callahan, Megan, Frisch, Amos, Cohen, Ian J., Tayebi, Nahid, Sidransky, Ellen (2000) Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease. The American Journal of Human Genetics, 66 (6) 1777-1786 doi:10.1086/302925 |
| 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 | |
![]() | Bettioui, Terkia, Chipeaux, Caroline, Ben Arfa, Kaouther, Héron, Sylvie, Belmatoug, Nadia, Franco, Mélanie, de Person, Marine, Moussa, Fathi (2023) Development of a new online SPE-HPLC-MS/MS method for the profiling and quantification of sphingolipids and phospholipids in red blood cells – Application to the study of Gaucher's disease. Analytica Chimica Acta, 1278. 341719 doi:10.1016/j.aca.2023.341719 |
| 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 | |
![]() | |
![]() | Gustavsson, Emil K., Sethi, Siddharth, Gao, Yujing, Brenton, Jonathan W., García-Ruiz, Sonia, Zhang, David, Garza, Raquel, Reynolds, Regina H., Evans, James R., Chen, Zhongbo, Grant-Peters, Melissa, Macpherson, Hannah, Montgomery, Kylie, Dore, Rhys, Wernick, Anna I., Arber, Charles, Wray, Selina, Gandhi, Sonia, Esselborn, Julian, Blauwendraat, Cornelis, Douse, Christopher H., Adami, Anita, Atacho, Diahann A. M., Kouli, Antonina, Quaegebeur, Annelies, Barker, Roger A., Englund, Elisabet, Platt, Frances, Jakobsson, Johan, Wood, Nicholas W., Houlden, Henry, Saini, Harpreet, Bento, Carla F., Hardy, John, Ryten, Mina (2024) The annotation of
GBA1
has been concealed by its protein-coding pseudogene
GBAP1. Science Advances, 10 (26) doi:10.1126/sciadv.adk1296 |
| 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 | |
![]() | Hughes, Derralynn, Mikosch, Peter, Belmatoug, Nadia, Carubbi, Francesca, Cox, TimothyM, Goker‐Alpan, Ozlem, Kindmark, Andreas, Mistry, PramodK, Poll, Ludger, Weinreb, Neal, Deegan, Patrick (2019) Gaucher Disease in Bone: From Pathophysiology to Practice. Journal of Bone and Mineral Research, 34 (6). 996-1013 doi:10.1002/jbmr.3734 |
| 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 |
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