Results 31 to 40 of about 565 (80)

The Genetics behind Sulfation: Impact on Airway Remodeling. [PDF]

J Pers Med
Ntenti C, Papakonstantinou E, Fidani L, Stolz D, Goulas A.   +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

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency. [PDF]

Mol Ther
Pham V, Tricoli L, Hong X, Wongkittichote P, Castruccio Castracani C, Guerra A, Schlotawa L, Adang LA, Kuhs A, Cassidy MM, Kane O, Tsai E, Presa M, Lutz C, Rivella SB, Ahrens-Nicklas RC.   +15 more
europepmc   +1 more source

Screening of phytoconstituents from Bacopa monnieri (L.) Pennell and Mucuna pruriens (L.) DC. to identify potential inhibitors against Cerebroside sulfotransferase. [PDF]

PLoS One
Singh N, Singh AK.
europepmc   +1 more source

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program. [PDF]

Int J Neonatal Screen
Malvagia S, Bettiol A, Porcaro M, Mura M, Funghini S, Ombrone D, Forni G, Scolamiero E, Coppi F, Damiano R, Cereda C, Simonetti S, Lonetti A, Daniotti M, Caciotti A, Morrone A, Calbi V, Fumagalli F, Aiuti A, Procopio E, Guerrini R, la Marca G.   +21 more
europepmc   +1 more source

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide. [PDF]

Mol Genet Metab
Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu THY.   +14 more
europepmc   +1 more source

Biochemical signatures of disease severity in multiple sulfatase deficiency. [PDF]

J Inherit Metab Dis
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC.   +15 more
europepmc   +1 more source

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation. [PDF]

J Clin Invest
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley RJ, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Khan S, Tomatsu S, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV.   +23 more
europepmc   +1 more source

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS). [PDF]

Genes (Basel)
Hammoud M, Domínguez-Ruiz M, Assiri I, Rodrigues D, Aboussair N, Lanza VF, Villarrubia J, Colón C, Fdil N, Del Castillo FJ.   +9 more
europepmc   +1 more source