Results 141 to 150 of about 15,059 (213)

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach. [PDF]

J Inherit Metab Dis
Mohajer A, Sevagamoorthy A, Bean K, Mutua S, Pang F, Adang LA.   +5 more
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

Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report. [PDF]

Radiol Case Rep, 2023
Katwal S, Suwal S, Lamichhane S, Bhusal A, Ghimire A.   +4 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

Natural history of adult-onset metachromatic leukodystrophy. [PDF]

J Neurol
Mandia D, Dufour J, Fenu S, Salsano E, Benzoni C, Sellal F, Pariente J, Cengiz N, Pettazzoni M, Levade T, Lamari F, Caillaud C, La Piana R, Brassat D, Durand-Dubief F, Besson G, Odent S, Devos D, Barbay M, Makrygianni M, Kumperscak HG, Froissart R, Nadjar Y.   +22 more
europepmc   +1 more source

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany. [PDF]

Orphanet J Rare Dis
Kehrer C, Bevot A, Martin P, Raabe C, Gregor S, Krägeloh-Mann I, Groeschel S.   +6 more
europepmc   +1 more source

An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy. [PDF]

Mol Genet Metab Rep, 2023
Gómez J, Artigas L, Valls R, Gervas-Arruga J.   +3 more
europepmc   +1 more source

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL. [PDF]

Eur J Neurol
Benzoni C, Moscatelli M, Bersano A, Del Sole A, Salsano E.   +4 more
europepmc   +1 more source

MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation

NeuroImage: Clinical, 2022
Joana Feldmann, Pascal Martin, B. Bender, L. Laugwitz, L. Zizmare, C. Trautwein, I. Krägeloh-Mann, U. Klose, S. Groeschel   +8 more
semanticscholar   +1 more source