Results 101 to 110 of about 3,970 (184)

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy. [PDF]

Case Rep Psychiatry
Metelmann M, Köhler W, Schomerus G, Speerforck S.   +3 more
europepmc   +1 more source

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

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

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

Infantile Metachromatic Leukodystrophy (MLD): A Rare Case. [PDF]

Cureus, 2022
Gajbhiye V, Lamture Y, Uke P.
europepmc   +1 more source

Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report

, 2005
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease with well-documented intracranial findings on neuroimaging both by computed tomography (CT) and MRI. We describe the first case of late infantile MLD with spinal involvement revealed by
BATTISTELLA, PIER ANTONIO, LAVERDA, ANNA MARIA, TOLDO, IRENE, CAROLLO C.   +3 more
core  

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

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

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

Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy

Emerging Infectious Diseases, 2016
Rebekka Kohlmann, Karin Barenberg, Agnes Anders, Sören G. Gatermann   +3 more
doaj   +1 more source