Clinical proton MR spectroscopy in central nervous system disorders
A large body of published work shows that proton (hydrogen 1 [1H]) magnetic resonance
(MR) spectroscopy has evolved from a research tool into a clinical neuroimaging modality …
(MR) spectroscopy has evolved from a research tool into a clinical neuroimaging modality …
[HTML][HTML] Metachromatic leukodystrophy: diagnosis, modeling, and treatment approaches
AA Shaimardanova, DS Chulpanova… - Frontiers in …, 2020 - frontiersin.org
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by
damage of the myelin sheath that covers most of nerve fibers of the central and peripheral …
damage of the myelin sheath that covers most of nerve fibers of the central and peripheral …
[HTML][HTML] Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
Purpose To develop educational guidelines for the diagnostic confirmation and
management of individuals identified by newborn screening, family-based testing after …
management of individuals identified by newborn screening, family-based testing after …
Metachromatic leukodystrophy: disease spectrum and approaches for treatment
DF Van Rappard, JJ Boelens, NI Wolf - Best Practice & Research Clinical …, 2015 - Elsevier
Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive
mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the …
mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the …
Association of age at onset and first symptoms with disease progression in patients with metachromatic leukodystrophy
C Kehrer, S Elgün, C Raabe, J Böhringer… - Neurology, 2021 - AAN Enterprises
Objective To compare disease progression between different onset forms of metachromatic
leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the …
leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the …
[HTML][HTML] Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
S Beerepoot, S Nierkens, JJ Boelens… - Orphanet journal of rare …, 2019 - Springer
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic
disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its …
disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its …
Long-term outcome of allogeneic hematopoietic stem cell transplantation in patients with juvenile metachromatic leukodystrophy compared with nontransplanted …
S Groeschel, JS Kühl, AE Bley, C Kehrer… - JAMA …, 2016 - jamanetwork.com
Importance Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only
treatment option clinically available during the last 20 years for juvenile metachromatic …
treatment option clinically available during the last 20 years for juvenile metachromatic …
[HTML][HTML] Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: results from a phase 1/2 clinical trial
C í Dali, C Sevin, I Krägeloh-Mann, R Giugliani… - Molecular Genetics and …, 2020 - Elsevier
Background Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder
caused by deficient arylsulfatase A (ASA) activity and characterized by neurological …
caused by deficient arylsulfatase A (ASA) activity and characterized by neurological …
Microglia damage precedes major myelin breakdown in X‐linked adrenoleukodystrophy and metachromatic leukodystrophy
CG Bergner, F Van Der Meer, A Winkler, C Wrzos… - Glia, 2019 - Wiley Online Library
Abstract X‐linked adrenoleukodystrophy (X‐ALD) and metachromatic leukodystrophy (MLD)
are two relatively common examples of hereditary demyelinating diseases caused by a …
are two relatively common examples of hereditary demyelinating diseases caused by a …
Adult leukodystrophies: a step-by-step diagnostic approach
LL Resende, ARB de Paiva, F Kok, C da Costa Leite… - Radiographics, 2019 - pubs.rsna.org
Leukodystrophies usually affect children, but in the last several decades, many instances of
adult leukodystrophies have been reported in the medical literature. Because the clinical …
adult leukodystrophies have been reported in the medical literature. Because the clinical …