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 …
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 …
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European …
DH Schoenmakers, S Beerepoot… - Orphanet Journal of …, 2022 - Springer
Abstract Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder.
Patients suffer from relentless neurological deterioration leading to premature death …
Patients suffer from relentless neurological deterioration leading to premature death …
[HTML][HTML] Arylsulfatase A deficiency
N Gomez-Ospina - GeneReviews®[Internet], 2020 - ncbi.nlm.nih.gov
Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is
characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD …
characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD …
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings
Disorders of intracellular trafficking are a group of inherited disorders, which often display
multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11 …
multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11 …
The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
SC Chang, CS Eichinger, P Field - European Journal of Medical Research, 2024 - Springer
Abstract Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a
rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to …
rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to …
[HTML][HTML] Newborn screening in metachromatic leukodystrophy–European consensus-based recommendations on clinical management
L Laugwitz, DH Schoenmakers, LA Adang… - European journal of …, 2024 - Elsevier
Introduction Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal
storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide …
storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide …
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility
KY Manisha, A Fasaludeen, P Poulose… - Neurology …, 2024 - neurology.org
Background and Objectives Next-generation sequencing (NGS) has expedited the
diagnostic process and unearthed many rare disorders in leukodystrophy (LD) and genetic …
diagnostic process and unearthed many rare disorders in leukodystrophy (LD) and genetic …
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease
RN Villar-Quiles, S Leonard-Louis, NT Trang… - Neuromuscular …, 2021 - Elsevier
Biallelic variants in PLEKHG5 have been reported so far associated with different clinical
phenotypes including Lower motor neuron disease (LMND)[also known as distal hereditary …
phenotypes including Lower motor neuron disease (LMND)[also known as distal hereditary …
Clinical and laboratory profile of pediatric metachromatic leukodystrophies in a tertiary care center from Southern Part of India
VK Gowda, SG Suryanarayana… - Journal of Pediatric …, 2022 - journals.lww.com
Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal
disorder due to the deficiency of arylsulfatase A enzyme. Materials and Methods: This is a …
disorder due to the deficiency of arylsulfatase A enzyme. Materials and Methods: This is a …