Results 21 to 30 of about 565 (80)

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency. [PDF]

Commun Med (Lond)
Presa M, Bailey RM, Ray S, Bailey L, Tata S, Murphy T, Piec PA, Combs H, Gray SJ, Lutz C.   +9 more
europepmc   +1 more source

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model. [PDF]

Commun Med (Lond)
Presa M, Pham V, Ray S, Piec PA, Ryan J, Billings T, Coombs H, Schlotawa L, Lund T, Ahrens-Nicklas RC, Lutz C.   +10 more
europepmc   +1 more source

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation. [PDF]

Sci Rep, 2023
Mashima R, Ohira M, Okuyama T, Onodera M, Takada S.   +4 more
europepmc   +1 more source

Association of Rare Variants in ARSA with Parkinson's Disease. [PDF]

Mov Disord, 2023
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z.   +24 more
europepmc   +1 more source

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders. [PDF]

Genes (Basel)
Urizar E, McCarron EP, Gadepalli C, Bentley A, Woolfson P, Lin S, Iosifidis C, Browning AC, Bassett J, Senarathne UD, Indika NR, Church HJ, Cooper JA, Menendez Lorenzo J, Farrugia ME, Jones SA, Black GC, Stepien KM.   +17 more
europepmc   +1 more source

Structural and Functional Integration of Tissue-Nonspecific Alkaline Phosphatase Within the Alkaline Phosphatase Superfamily: Evolutionary Insights and Functional Implications. [PDF]

Metabolites
Imam I, Rautureau GJP, Violot S, Drevet Mulard E, Magne D, Ballut L.   +5 more
europepmc   +1 more source

Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. [PDF]

PLoS One, 2023
Ataei Z, Nouri Z, Tavakoli F, Pourreza MR, Narrei S, Tabatabaiefar MA.   +5 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

Sulfation Pathways During Neurodevelopment. [PDF]

Front Mol Biosci, 2022
Clarke T, Fernandez FE, Dawson PA.
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