Results 131 to 140 of about 90,357 (220)

Spectrum of Paediatric Lysosomal Storage Disorders in Oman

open access: yesSultan Qaboos University Medical Journal, 2012
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]

open access: yesExpert Rev Endocrinol Metab, 2022
D'Souza A, Ryan E, Sidransky E.
europepmc   +1 more source

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder [PDF]

open access: gold, 2019
Inusha Panigrahi   +6 more
openalex   +1 more source

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects. [PDF]

open access: yesPrenat Diagn, 2023
Herzeg A   +13 more
europepmc   +1 more source

A kaleidoscopic view of extracellular vesicles in lysosomal storage disorders. [PDF]

open access: yesExtracell Vesicles Circ Nucl Acids, 2022
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]

open access: yesBiomolecules, 2023
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]

open access: yes, 2017
Austin, Christopher P.   +8 more
core   +2 more sources

Lysosomal storage disorders: from biology to the clinic with reference to India. [PDF]

open access: yesLancet Reg Health Southeast Asia, 2023
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]

open access: gold, 2022
Ruotong Li   +10 more
openalex   +1 more source

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