Spectrum of Paediatric Lysosomal Storage Disorders in Oman
Objectives: The aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman. Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited metabolic diseases.
Almundher A Al-Maawali +6 more
doaj
Facial features of lysosomal storage disorders. [PDF]
D'Souza A, Ryan E, Sidransky E.
europepmc +1 more source
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder [PDF]
Inusha Panigrahi +6 more
openalex +1 more source
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects. [PDF]
Herzeg A +13 more
europepmc +1 more source
'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases [PDF]
Machtelt G. Bouwman +3 more
openalex +1 more source
A kaleidoscopic view of extracellular vesicles in lysosomal storage disorders. [PDF]
Hegeman CV, de Jong OG, Lorenowicz MJ.
europepmc +1 more source
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification. [PDF]
Keyzor I +10 more
europepmc +1 more source
Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]
Austin, Christopher P. +8 more
core +2 more sources
Lysosomal storage disorders: from biology to the clinic with reference to India. [PDF]
Sheth J, Nair A, Jee B.
europepmc +1 more source
Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry [PDF]
Ruotong Li +10 more
openalex +1 more source

