Utilidad de la biopsia de piel en el diagnóstico de enfermedades neurológicas

par de la Sotta F,Pilar, Romero G,William, González B,Sergio
Publié 2008

Prevalence of Cancer in Acid Sphingomyelinase Deficiency

par Wladimir Mauhin, Thierry Levade, Marie T. Vanier, Roseline Froissart, Olivier Lidove
Publié 2021

Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review

par Daniela Vuolo, Cinthia Castro Do Nascimento, Vânia D’Almeida, Vânia D’Almeida
Publié 2021

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases

par Valentina La Cognata, Sebastiano Cavallaro
Publié 2021

The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders

par Asburçe Olgaç, Çiğdem Seher Kasapkara, Burak Açıkel, Yılmaz Yıldız, Gülhan Karakaya Molla, Mustafa Kılıç
Publié 2021

The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population

par Yu-wen Zhao, Yu-wen Zhao, Hong-xu Pan, Hong-xu Pan, Zhenhua Liu, Yige Wang, Qian Zeng, Zheng-huan Fang, Teng-fei Luo, Kun Xu, Zheng Wang, Xun Zhou, Runcheng He, Bin Li, Guihu Zhao, Qian Xu, Qi-ying Sun, Xin-xiang Yan, Jie-qiong Tan, Jin-chen Li, Jin-chen Li, Jin-chen Li, Ji-feng Guo, Ji-feng Guo, Ji-feng Guo, Ji-feng Guo, Bei-sha Tang, Bei-sha Tang, Bei-sha Tang, Bei-sha Tang
Publié 2021

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

par Paschalis Nicolaou, Paschalis Nicolaou, George A. Tanteles, George A. Tanteles, Christina Votsi, Christina Votsi, Eleni Zamba-Papanicolaou, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Savvas S. Papacostas, Kyproula Christodoulou, Kyproula Christodoulou, Yiolanda-Panayiota Christou, Yiolanda-Panayiota Christou
Publié 2021

Targetable Pathways for Alleviating Mitochondrial Dysfunction in Neurodegeneration of Metabolic and Non-Metabolic Diseases

par Lauren Elizabeth Millichap, Elisabetta Damiani, Luca Tiano, Iain P. Hargreaves
Publié 2021

Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II

par Koji Matsuhisa, Kazunori Imaizumi
Publié 2021

AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study

par Huimin Hu, Rosario Mosca, Elida Gomero, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Scott A. Brown, Jason A. Weesner, Ida Annunziata, Alessandra d’Azzo
Publié 2021

Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

par Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney, Charlie Iaconangelo, Daniel Serrano, Vijay Modur, Juan Politei
Publié 2021