Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease. [PDF]
Lipids Health DisJavanshad R +3 more
europepmc +1 more source
Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease. [PDF]
Life (Basel)Lipiński P +11 more
europepmc +1 more source
New Insights in the Diagnosis and Treatment of Atrial Fibrillation in Patients with Hypertrophic Obstructive Cardiomyopathy. [PDF]
J Clin MedAngelescu CM +6 more
europepmc +1 more source
Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany. [PDF]
Orphanet J Rare DisHilz MJ +8 more
europepmc +1 more source
Advancing CNS Therapeutics: Enhancing Neurological Disorders with Nanoparticle-Based Gene and Enzyme Replacement Therapies. [PDF]
Int J NanomedicineLiu S, Li H, Xi S, Zhang Y, Sun T.
europepmc +1 more source
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1. [PDF]
J Inherit Metab DisCasazza K +3 more
europepmc +1 more source
Lipid storage disease in 4 sibling superb birds-of-paradise (Lophorina superba). [PDF]
Vet PatholMcKenzie CM +7 more
europepmc +1 more source
Nonfatal Isolated Cardiac Nonlysosomal Glycogenosis: A Rare Cause of Infantile Hypertrophic Cardiomyopathy. [PDF]
CJC Pediatr Congenit Heart DisDeshaies C, Sett S, Penney L, Dhillon S.
europepmc +1 more source
Lysosomal Channels as New Molecular Targets in the Pharmacological Therapy of Neurodegenerative Diseases <i>via</i> Autophagy Regulation. [PDF]
Curr NeuropharmacolTedeschi V +5 more
europepmc +1 more source