Results 131 to 140 of about 6,120 (170)

Exploration of phytoconstituents of Medhya Rasayana herbs to identify potential inhibitors for cerebroside sulfotransferase through high-throughput screening. [PDF]

Front Mol Biosci
Singh N, Singh AK.
europepmc   +1 more source

α-Selective Glycosidation of the Rare Sugar d-Tagatofuranose and the Synthesis of α-d-Tagatofuranosylceramide. [PDF]

Int J Mol Sci
Makura Y, Iyoshi A, Horiuchi M, Hu Y, Tanaka M, Ueda A.   +5 more
europepmc   +1 more source

Editorial for Special Issue on Gene Therapy of Rare Diseases. [PDF]

Cells
Brakebusch C.
europepmc   +1 more source

Diffuse high-grade glioma with gliomatosis cerebri pattern mimicking symmetric white matter disease. [PDF]

Radiol Case Rep
Abouchiba S, Ennasery Z, Ouazzani H, Chaouche I, Akammar A, El Bouardi N, Haloua M, Alami B, Lamrani MYA, Boubbou M, Maaroufi M.   +10 more
europepmc   +1 more source

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study. [PDF]

Mol Genet Metab Rep
Donti TR, DiPerna JC, Hegde MR, Revvity Omics, Inc.   +4 more
europepmc   +1 more source

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. [PDF]

Ghana Med J
Keita M, Faye BF, Senghor AB, Diallo AB, Bousso ES, Touré SA, Seck M, Diop S.   +7 more
europepmc   +1 more source

Multifunctional bioactivity of Portulaca oleracea seed oil: GC-MS-based characterization and in vitro evaluation. [PDF]

Sci Rep
Ahmed RM, Ebrahim HNEAE, Al-Saman MA, Ramadan MF, Elsanhoty RM.   +4 more
europepmc   +1 more source

Phytoconstituents of Withania somnifera (L.) Dunal (Ashwagandha) unveiled potential cerebroside sulfotransferase inhibitors: insight through virtual screening, molecular dynamics, toxicity, and reverse pharmacophore analysis. [PDF]

J Biol Eng
Singh N, Singh AK.
europepmc   +1 more source

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source