Found: 9
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Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8586, doi. 10.3390/ijms25168586
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- Publication type:
- Article
Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C.
- Published in:
- Frontiers in Physiology, 2017, v. 8, p. 1, doi. 10.3389/fphys.2017.00039
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- Publication type:
- Article
LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 5, p. 798, doi. 10.1515/cclm-2019-0949
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- Publication type:
- Article
Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease.
- Published in:
- Journal of Orthopaedic Surgery & Research, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13018-019-1452-y
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- Publication type:
- Article
Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.
- Published in:
- Journal of Clinical Laboratory Analysis, 2024, v. 38, n. 13/14, p. 1, doi. 10.1002/jcla.25083
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- Publication type:
- Article
Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency.
- Published in:
- Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2019, v. 18, n. 4, p. 646, doi. 10.1016/j.aohep.2018.07.005
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- Publication type:
- Article
New variants in Spanish Niemann–Pick type c disease patients.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 3, p. 2085, doi. 10.1007/s11033-020-05308-7
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- Publication type:
- Article
Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
- Published in:
- 2020
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- Publication type:
- journal article
Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.
- Published in:
- BMC Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12863-015-0267-z
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- Publication type:
- Article