Yasmina Amraoui
Hochheim, TH, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.
Journal: Molecular genetics and metabolism reports
Published: May 17, 2022
Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 15, 2022
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.
Journal: Molecular genetics and metabolism reports
Published: December 13, 2021
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
Journal: European journal of neurology
Published: March 06, 2021
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.
Journal: Molecular genetics and metabolism reports
Published: January 08, 2020
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Journal: The Journal of pediatrics
Published: February 15, 2019
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.
Journal: Frontiers in immunology
Published: November 07, 2018
Retinal and optic nerve degeneration in α-mannosidosis.
Journal: Orphanet journal of rare diseases
Published: March 23, 2018
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
Journal: Journal of inherited metabolic disease
Published: June 16, 2017
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
Journal: Journal of inherited metabolic disease
Published: June 16, 2017
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Journal: Orphanet journal of rare diseases
Published: February 09, 2015
Last Updated: 09/26/2026