Results 61 to 70 of about 620 (115)

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes. [PDF]

Sci Rep, 2023
Badenetti L, Manzoli R, Trevisan M, D'Avanzo F, Tomanin R, Moro E.   +5 more
europepmc   +1 more source

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases. [PDF]

Mol Genet Metab Rep
Yoldaş Çelik M, Köşeci B, Burgaç E, Yararbaş K.   +3 more
europepmc   +1 more source

Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series. [PDF]

Blood Adv
Riedel A, Faul C, Reuss K, Schröder JC, Lang PJ, Lengerke C, Weissert N, Hengel H, Gröschel S, Schoels L, Bethge WA.   +10 more
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

Etude du compartiment lysosomal dans le foie et le cerveau de souris CLN2 -/- [PDF]

, 2006
Lardinois, Amélyne
core  

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

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

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

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

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