Results 41 to 50 of about 565 (80)

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. [PDF]

Hum Genet
Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Barrón LTJ, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT.   +68 more
europepmc   +1 more source

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency. [PDF]

Mol Genet Metab
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC.   +14 more
europepmc   +1 more source

Hematopoietic stem cell gene therapy of neurometabolic lysosomal storage diseases.

Brain Dev
Consiglieri G, Tucci F, Bernardo ME.
europepmc   +1 more source

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. [PDF]

Cytotherapy
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A.   +31 more
europepmc   +1 more source

A systematic review on the birth prevalence of metachromatic leukodystrophy. [PDF]

Orphanet J Rare Dis
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y.   +4 more
europepmc   +1 more source

Purifying selection of the lysosomal enzymes arylsulfatase A and beta-galactocerebrosidase and their evolutionary impact on myelin integrity. [PDF]

J Lipid Res
Luetzen MA, Chakraborty R, Moreno-Ramos OA, Echeverri-Peña OY, Satta Y, Montaño AM.   +5 more
europepmc   +1 more source

Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study. [PDF]

Protein Cell
Zhang Z, Jiang H, Huang L, Liu S, Zhou X, Cai Y, Li M, Gao F, Liang X, Tsang KS, Chen G, Ma CY, Chai YH, Liu H, Yang C, Yang M, Zhang X, Han S, Du X, Chen L, Hwu WL, Zhuo J, Lian Q.   +22 more
europepmc   +1 more source

Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy. [PDF]

Ann Clin Transl Neurol
Farah MH, Dali CÍ, Groeschel S, Moldovan M, Whiteman DAH, Malanga CJ, Krägeloh-Mann I, Li J, Barton N, Krarup C.   +9 more
europepmc   +1 more source

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy. [PDF]

J Inherit Metab Dis
Beerepoot S, Schoenmakers DH, Fumagalli F, Groeschel S, Schöls L, Schiffmann R, Wong S, Boespflug-Tanguy O, Sevin C, Nadjar Y, Bley A, Mochel F, Horn MA, Baldoli C, Locatelli S, Hengel H, Laugwitz L, Hollak CEM, Gieselmann V, van der Knaap MS, Wolf NI.   +20 more
europepmc   +1 more source

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]

NPJ Genom Med
Chapleau A, Perrier S, Durcan TM, Bernard G.   +3 more
europepmc   +1 more source