Results 131 to 140 of about 4,196 (206)

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

Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. [PDF]

Ther Innov Regul Sci
Farmer C, Kim V, Das T, Cutler S, Wallis H, Thurm A.   +5 more
europepmc   +1 more source

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases. [PDF]

Mol Genet Metab
Kell P, Mishra S, Gray-Edwards HL, Martin DR, Gaudioso A, Ledesma MD, Bongarzone ER, Sands MS, Sidransky E, Ory DS, Jiang X.   +10 more
europepmc   +1 more source

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source

Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies. [PDF]

Front Med (Lausanne)
Ye Y, Wang X, He Y, Ning H, Zhang Z, Tao F, Zou Z, Fang Q, Chen Z, Tian X, Hao X.   +10 more
europepmc   +1 more source

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model. [PDF]

Int J Mol Sci
Liu S, Xie T, Huang Y.
europepmc   +1 more source

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot. [PDF]

Am J Ophthalmol Case Rep
Tsutsumi N, Sakata S, Ikari R, Ebihara N.   +3 more
europepmc   +1 more source

Infection of a β-galactosidase-deficient mouse strain with Theiler's murine encephalomyelitis virus reveals limited immunological dysregulations in this lysosomal storage disease. [PDF]

Front Immunol
Wannemacher R, Stegmann F, Eikelberg D, Bühler M, Li D, Kohale SK, Asawapattanakul T, Ebbecke T, Raulf MK, Baumgärtner W, Lepenies B, Gerhauser I.   +11 more
europepmc   +1 more source

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction. [PDF]

PLoS Biol
Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, McKie SJ, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE.   +11 more
europepmc   +1 more source

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution? [PDF]

Cells
Spedding M.
europepmc   +1 more source