Claudia Cozma
Rostock, MV 18055, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Journal: Diagnostics (Basel, Switzerland)
Published: July 13, 2023
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.
Journal: Clinical and translational allergy
Published: June 20, 2023
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease.
Journal: Scientific reports
Published: March 14, 2023
Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.
Journal: Internal medicine journal
Published: February 15, 2023
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.
Journal: International journal of molecular sciences
Published: January 23, 2023
The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy.
Journal: Journal of clinical medicine
Published: January 05, 2023
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Journal: European journal of human genetics : EJHG
Published: November 29, 2022
A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk.
Journal: International journal of molecular sciences
Published: August 01, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Journal: European journal of human genetics : EJHG
Published: February 16, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Journal: International journal of molecular sciences
Published: December 29, 2021
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Journal: Orphanet journal of rare diseases
Published: December 21, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Journal: Journal of medical genetics
Published: August 11, 2021
Last Updated: 09/26/2026