• A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
• A comprehensive review on structural and therapeutical insight of Cerebroside sulfotransferase (CST) - An important target for development of substrate reduction therapy against metachromatic leukodystrophy
• A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead
• A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel
• A systematic review on the birth prevalence of metachromatic leukodystrophy
• Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter
• Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series
• Allogeneic Hematopoietic Stem Cell Transplantation for Adult Metachromatic Leukodystrophy (MLD): A Case Series
• Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia
• An <em>in silico</em> approach to identify early damage biomarker candidates in metachromatic leukodystrophy
• An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy
• Atidarsagene autotemcel for metachromatic leukodystrophy
• Atidarsagene autotemcel for metachromatic leukodystrophy
• Basal nuclei are not involved in early metachromatic leukodystrophy
• Biallelic pathogenic variants in <em>POLR3D</em> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
• Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
• Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
• Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy
• Combined saposin deficiency: A rare occurrence
• Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability
• Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
• 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
• Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282
• Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <em>POLR3A</em>, <em>POLR3B</em> and <em>POLR1C</em>
• Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
• Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development
• Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
• Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy
• Early discoveries on enzyme deficiencies in lysosomal storage diseases: The Indian contribution
• Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
• Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy
• Elucidating the Therapeutic Utility of Olaparib in Sulfatide-Induced Human Astrocyte Toxicity and Neuroinflammation
• Engineered arylsulfatase A with increased activity, stability and brain delivery for therapy of metachromatic leukodystrophy
• Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India
• Evaluating meaningful changes in physical functioning and cognitive declines in metachromatic leukodystrophy: a caregiver interview study
• Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
• Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review
• Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and their family members: a qualitative systematic review
• Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK
• Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy
• FDA approves gene therapy for metachromatic leukodystrophy, the tenth for a genetic disease and the priciest yet
• Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
• Gene and Cellular Therapies for Leukodystrophies
• Gene therapy for neurodegenerative disorders in children: dreams and realities
• Gene Therapy of Sphingolipid Metabolic Disorders
• Glial Origins of Inherited White Matter Disorders
• Gross Motor Function in Pediatric Onset <em>TUBB4A</em>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <em>TUBB4A</em>
• Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A
• Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
• Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
• Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
• Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy
• Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy
• Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy
• Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study
• Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
• In Silico Structural Modeling and Binding Site Analysis of Cerebroside Sulfotransferase (CST): A Therapeutic Target for Developing Substrate Reduction Therapy for Metachromatic Leukodystrophy
• Infantile Metachromatic Leukodystrophy (MLD): A Rare Case
• Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report
• International Society for Cell &amp; Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced
• Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
• Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <em>PSAP</em> gene: Case report from India
• Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India
• Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: A long-term follow-up pilot study
• Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
• Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease
• Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
• Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy
• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
• Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy
• Metachromatic Leukodystrophy
• Metachromatic leukodystrophy in infant presenting as acute febrile illness: a case report
• Metachromatic leukodystrophy: A story of hope woven from sorrow
• Metachromatic leukodystrophy: To screen or not to screen?
• MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation
• Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
• Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome <em>c</em> oxidase deficiency: a case report
• New Gene Therapy Changes Treatment Landscape for Metachromatic Leukodystrophy
• Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
• Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation
• Olaparib Attenuates Demyelination and Neuroinflammation in an Organotypic Slice Culture Model of Metachromatic Leukodystrophy
• Orchard Therapeutics Gains First U.S. Approval for a Metachromatic Leukodystrophy Gene Therapy
• Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
• Preserving Ambulation in a Gene Therapy-Treated Girl Affected by Metachromatic Leukodystrophy: A Case Report
• Progress in leukodystrophies with zebrafish
• Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series
• Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs
• Single Systemic Administration of a Gene Therapy Leading to Disease Treatment in Metachromatic Leukodystrophy <em>Arsa</em> Knock-Out Mice
• Single Systemic Administration of a Gene Therapy Leading to Disease Treatment in Metachromatic Leukodystrophy Arsa Knock-Out Mice
• Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing
• Stagger along the Corpus Callosum - A Rare form of Adult Metachromatic Leukodystrophy
• The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases
• The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
• The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child
• The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy
• The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study
• The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
• Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine
• Undiagnosed Metachromatic Leukodystrophy Presenting as Severe Gastrointestinal Bleeding and Cholestasis from Hemobilia
• Viral Vectors in Gene Replacement Therapy