Search
Search Results
-
The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
BackgroundMetachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A...
-
A systematic review on the birth prevalence of metachromatic leukodystrophy
BackgroundMetachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA)...
-
Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series
Metachromatic leukodystrophy (MLD) is a neuro-metabolic disorder due to arylsulfatase A deficiency, causing demyelination of the central and...
-
Evaluating meaningful changes in physical functioning and cognitive declines in metachromatic leukodystrophy: a caregiver interview study
BackgroundMetachromatic leukodystrophy (MLD) is a rare lysosomal storage disease caused by deficient activity of arylsulfatase A (ASA). Treatment...
-
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
BackgroundMetachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to...
-
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
BackgroundFor decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy...
-
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy
BackgroundMetachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal...
-
The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
BackgroundMetachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor...
-
A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel
ObjectiveTo understand the benefit-risk profile for historical and current treatments for MLD.
MethodsA systematic review was conducted on the...
-
An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy
BackgroundMetachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now,...
-
The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland
Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A...
-
A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy
BackgroundPOLR3-related leukodystrophy is a group of rare neurodegenerative disorders characterized by degeneration of the white matter with...
-
T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy
PurposeT2-weighted signal hyperintensities in white matter (WM) are a diagnostic finding in brain magnetic resonance imaging (MRI) of patients with...
-
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
BackgroundLong-term outcomes of hematopoietic stem cell transplantation (HSCT) in children with juvenile metachromatic leukodystrophy (MLD) have been...
-
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of...
-
-
Correction to: Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia
The original version of this article unfortunately contained a mistake.
-
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates
BackgroundThe leukodystrophy “Vanishing White Matter” (VWM) is an orphan disease with neurological decline and high mortality. Currently, VWM has no...
-
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal...
-
Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over Two Decades
ObjectiveWe present outcome data on hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM).
...