Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report. [PDF]
De Geer K +5 more
europepmc +1 more source
Unraveling Stuttering Through a Multi-Omics Lens. [PDF]
Novaes Marques D.
europepmc +1 more source
Lysosomal Channels as New Molecular Targets in the Pharmacological Therapy of Neurodegenerative Diseases <i>via</i> Autophagy Regulation. [PDF]
Tedeschi V +5 more
europepmc +1 more source
The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment. [PDF]
Lipiński P, Tylki-Szymańska A.
europepmc +1 more source
Studies on cartilage and bone disease in Mucopolysaccharidoses and Mucolipidoses [PDF]
Oussoren, Esmeralda
openaire +2 more sources
Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders. [PDF]
Leal AF, Pachajoa H, Tomatsu S.
europepmc +1 more source
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II. [PDF]
Terawaki S +4 more
europepmc +1 more source
Triclabendazole suppresses cellular levels of glycosaminoglycan-A potential therapeutic agent for mucopolysaccharidoses and related diseases. [PDF]
Terawaki S +9 more
europepmc +1 more source
Giant corneal keloid following Descemet stripping automated endothelial keratoplasty for the treatment of corneal decompensation secondary to trauma. [PDF]
Vera-Duarte GR +6 more
europepmc +1 more source
Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II. [PDF]
Gonçalves M +14 more
europepmc +1 more source

