AIMC Topic: Gaucher Disease

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A machine learning model for early diagnosis of type 1 Gaucher disease using real-life data.

Journal of clinical epidemiology Sep 6, 2024
OBJECTIVE: The diagnosis of Gaucher disease (GD) presents a major challenge due to the high variability and low specificity of its clinical characteristics, along with limited physician awareness of the disease's early symptoms. Early and accurate di...
Male Middle Aged Infant Young Adult Adult ROC Curve Gaucher Disease Early Diagnosis Adolescent Child, Preschool Child Machine Learning Databases, Factual Female Humans
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Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients.

International journal of molecular sciences Aug 6, 2024
Type 1 Gaucher disease (GD1) is a rare, autosomal recessive disorder caused by glucocerebrosidase deficiency. Skeletal manifestations represent one of the most debilitating and potentially irreversible complications of GD1. Although imaging studies a...
Bone Diseases Chemokine CCL3 Machine Learning Humans Biomarkers Gaucher Disease
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Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease.

Bone Jun 2, 2024
Gaucher disease is one of the most common lysosomal storage disorders. Osteonecrosis is a principal clinical manifestation of Gaucher disease and often leads to joint collapse and fractures. T1-weighted (T1w) modality in MRI is widely used to monitor...
Male Middle Aged Deep Learning Young Adult Adult Gaucher Disease Bone Marrow Osteonecrosis Adolescent Image Processing, Computer-Assisted Magnetic Resonance Imaging Humans Female Femur
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Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association.

Indian journal of pathology & microbiology Jul 6, 2023
Anemia coexisting with Gaucher disease (GD) is often associated with non-hemolytic processes. Few cases of GD with autoimmune hemolytic anemia have been reported. However, literature on GD with concomitant nonimmune hemolytic anemia is scarce. A 1-ye...
Bone Marrow Infant Humans Gaucher Disease Male Glucosephosphate Dehydrogenase Deficiency
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Facial features of lysosomal storage disorders.

Expert review of endocrinology & metabolism Nov 16, 2022
INTRODUCTION: The use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be gr...
Artificial Intelligence Phenotype Lysosomes Gaucher Disease Humans
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Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.

Molecular genetics and metabolism Oct 5, 2021
Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patient...
Facial Recognition Musculoskeletal Abnormalities ROC Curve Gaucher Disease Humans Male Infant, Newborn Artificial Intelligence Infant Cohort Studies Young Adult Software Phenotype Adolescent Child, Preschool Adult Female Child
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Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.

Orphanet journal of rare diseases Sep 22, 2020
BACKGROUND: Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at ris...
Gaucher Disease Glucosylceramidase Enzyme Replacement Therapy Male Incidence Humans Registries Machine Learning Risk Factors Female Adult
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Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.

Proceedings of the National Academy of Sciences of the United States of America Feb 26, 2019
The lysosomal enzyme glucocerebrosidase-1 (GCase) catalyzes the cleavage of a major glycolipid glucosylceramide into glucose and ceramide. The absence of fully functional GCase leads to the accumulation of its lipid substrates in lysosomes, causing G...
Hydrogen Bonding Enzyme Activation Humans Protein Structure, Secondary Deep Learning Protein Interaction Maps Molecular Dynamics Simulation Gaucher Disease Mutant Proteins Catalytic Domain Glucosylceramidase Saposins
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