Results 151 to 160 of about 2,687,044 (278)

Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review. [PDF]

J Inherit Metab Dis
Gillan EM, Leiro B, Nagy A, Eichler F, Townsend EL.   +4 more
europepmc   +1 more source

Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue! [PDF]

Cells, 2022
Prat Castro S, Kudrina V, Jaślan D, Böck J, Scotto Rosato A, Grimm C.   +5 more
europepmc   +1 more source

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation. [PDF]

Front Genet
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]

J Inherit Metab Dis
Ain NU, Vaishnaw M, Mistry PK.
europepmc   +1 more source

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

Prenat Diagn, 2023
Herzeg A, Borges B, Lianoglou BR, Gonzalez-Velez J, Canepa E, Munar D, Young SP, Bali D, Gelb MH, Chakraborty P, Kishnani PS, Harmatz P, Cohen JL, MacKenzie TC.   +13 more
europepmc   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

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

Extracell Vesicles Circ Nucl Acids, 2022
Hegeman CV, de Jong OG, Lorenowicz MJ.
europepmc   +1 more source

Enteric nervous system disease in neuronopathic lysosomal storage disorders. [PDF]

Neural Regen Res
Ziółkowska EA, Heuckeroth RO, Cooper JD.   +2 more
europepmc   +1 more source

Comparative Transcriptional Profiling of Key Macrophage and Fibroblast Subpopulations in Rheumatoid Arthritis–Associated Lung Disease

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) often involves extra‐articular complications, including interstitial lung disease (ILD) and/or pulmonary nodules. Transcriptomic profiling of lung tissue provides the opportunity to directly assess cell‐specific gene expression and corresponding pathway activation in different types of rheumatoid lung disease ...
Tracy Tabib, Ogechukwu Ezenwa, Joshua Sciurba, Eleanor B. Valenzi, John Sembrat, Brittany Cody, Jishnu Das, Robert Lafyatis, Dana P. Ascherman   +8 more
wiley   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source