Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 04/25/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 5747 publications

Clinical and Laboratory Characteristics of Gaucher Disease Caused by Complex Heterozygous Mutation.

Clinical and Laboratory Characteristics of Gaucher Disease Caused by Complex Heterozygous Mutation.

Journal: Clinical laboratory
Published: April 10, 2025

Pharmacogenomics and rare diseases: optimizing drug development and personalized therapeutics.

Pharmacogenomics and rare diseases: optimizing drug development and personalized therapeutics.

Journal: Pharmacogenomics
Published: April 07, 2025

Short Stature as a Diagnostic Indicator for Children with Gaucher Disease.

Short Stature as a Diagnostic Indicator for Children with Gaucher Disease.

Journal: The Israel Medical Association journal : IMAJ
Published: March 26, 2025

Effect of LRRK2 Inhibition on the Activity of Glucocerebrosidase in Patient-Specific Cells from Patients with Gaucher Disease.

Effect of LRRK2 Inhibition on the Activity of Glucocerebrosidase in Patient-Specific Cells from Patients with Gaucher Disease.

Journal: Biochemistry. Biokhimiia
Published: March 09, 2025

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Journal: Journal of neural transmission (Vienna, Austria : 1996)
Published: March 06, 2025

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism.

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism.

Journal: bioRxiv : the preprint server for biology
Published: March 03, 2025

Unusual cause of thrombocytopaenia in pregnancy: compound heterozygous Gaucher's disease.

Unusual cause of thrombocytopaenia in pregnancy: compound heterozygous Gaucher's disease.

Journal: BMJ case reports
Published: February 25, 2025

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach.

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach.

Journal: JIMD reports
Published: February 04, 2025

Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.

Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.

Journal: Journal of personalized medicine
Published: February 03, 2025

Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.

Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.

Journal: Children (Basel, Switzerland)
Published: January 30, 2025

Cultured Macrophage Models for the Investigation of Lysosomal Glucocerebrosidase and Gaucher Disease.

Cultured Macrophage Models for the Investigation of Lysosomal Glucocerebrosidase and Gaucher Disease.

Journal: International journal of molecular sciences
Published: January 27, 2025

Glucocerebrosidase Deficiency Dysregulates Human Astrocyte Lipid Metabolism.

Glucocerebrosidase Deficiency Dysregulates Human Astrocyte Lipid Metabolism.

Journal: bioRxiv : the preprint server for biology
Published: January 27, 2025
Showing 1-12 of 5,747

Last Updated: 04/25/2025