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Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9139, doi. 10.3390/ijms25179139
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- Article
miR-126-3p and miR-21-5p as Hallmarks of Bio-Positive Ageing; Correlation Analysis and Machine Learning Prediction in Young to Ultra-Centenarian Sicilian Population.
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- Cells (2073-4409), 2022, v. 11, n. 9, p. N.PAG, doi. 10.3390/cells11091505
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- Article
Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease.
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- Cells (2073-4409), 2021, v. 10, n. 2, p. 356, doi. 10.3390/cells10020356
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- Article
Role of S128R polymorphism of E-selectin in colon metastasis formation.
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- International Journal of Cancer, 2007, v. 121, n. 3, p. 528, doi. 10.1002/ijc.22693
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- Article
Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1122893
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- Article
Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1122893
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- Publication type:
- Article
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15924, doi. 10.3390/ijms242115924
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- Article
Halloysite Nanotubes and Sepiolite for Health Applications.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4801, doi. 10.3390/ijms24054801
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- Article
Nanomaterials: A Review about Halloysite Nanotubes, Properties, and Application in the Biological Field.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11518, doi. 10.3390/ijms231911518
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- Article
Identification of Biomarkers in Cerebrospinal Fluid and Serum of Multiple Sclerosis Patients by Immunoproteomics Approach.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 12, p. 23269, doi. 10.3390/ijms151223269
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- Article
Fabry disease, a complex pathology not easy to diagnose.
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- Cardiogenetics, 2015, v. 5, n. 1, p. 17, doi. 10.4081/cardiogenetics.2015.5612
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- Article
Sex Differences in Anderson–Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
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- Genes, 2023, v. 14, n. 9, p. 1804, doi. 10.3390/genes14091804
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- Publication type:
- Article
Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5158, doi. 10.3390/ijms25105158
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- Article
Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study.
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- Nephrology Dialysis Transplantation, 2015, v. 30, n. 4, p. 661, doi. 10.1093/ndt/gfu273
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- Article
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.
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- 2022
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- Publication type:
- Case Study
De novo mutation in a male patient with Fabry disease: a case report.
- Published in:
- BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-11
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- Article
Two distinct amplification events of the c-myc locus in a colorectal tumour.
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- Journal of Cellular Physiology, 2008, v. 217, n. 1, p. 34, doi. 10.1002/jcp.21469
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- Publication type:
- Article
Effects of carboxyamidotriazole on in vitro models of imatinib-resistant chronic myeloid leukemia.
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- Journal of Cellular Physiology, 2008, v. 215, n. 1, p. 111, doi. 10.1002/jcp.21290
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- Publication type:
- Article
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.
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- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1487, doi. 10.3390/jcm13051487
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- Article
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.
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- BMC Nephrology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12882-023-03388-8
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- Article
High Variability of Fabry Disease Manifestations in an Extended Italian Family.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/504784
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- Publication type:
- Article
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area.
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- Kidney & Blood Pressure Research, 2018, v. 43, n. 4, p. 1344, doi. 10.1159/000492593
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- Publication type:
- Article
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.
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- BMC Cardiovascular Disorders, 2012, v. 12, n. 1, p. 39, doi. 10.1186/1471-2261-12-39
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- Article