Multiparametric MRI analysis of clinical outcome after hematopoietic stem cell transplantation in juvenile Metachromatic Leukodystrophy.

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency.

Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.

A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases.

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Juvenile metachromatic leukodystrophy caused by a rare genetic mutation.

Chorea in Hereditary Leukodystrophies - Overview of Two Cases.

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation.

Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.

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

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.

Encapsulated cells as an enzyme replacement therapy for metachromatic leukodystrophy.

Two Novel Mutations in the PSAP Gene Causing a Metachromatic Leukodystrophy (MLD)-like Phenotype and a Review of the Literature.

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Gene therapy for lysosomal storage diseases.

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy.

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach.

Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany.

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

[Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum].

Fertility preservation by ovarian tissue cryopreservation of children in China--umbilical single-incision surgery and perioperative experience.

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.

Blood Biomarkers Reflecting Brain Pathology-From Common Grounds to Rare Frontiers.

Effects of atidarsagene autotemcel gene therapy on peripheral nerves in late-infantile metachromatic leukodystrophy.

Treatment of leukodystrophies: Advances and challenges.

Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy.

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Single cell RNAseq to identify subpopulations of glial progenitors in iPSC-derived oligodendroglial lineage cultures.

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL.

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.

Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations.

Natural history of adult-onset metachromatic leukodystrophy.

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS.

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.

POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.

Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes.

Newborn screening and rapid genomic diagnosis of neuromuscular diseases.

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

A Rare Clinical Confluence: Metachromatic Leukodystrophy and Distal Renal Tubular Acidosis.

An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance.

Unifying biology of neurodegeneration in lysosomal storage diseases.

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Relative Frequency of Metachromatic Leukodystrophy in Egypt: A Reference Laboratory Report.

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan.

Data-Independent Acquisition-Parallel Reaction Monitoring Acquisition Reveals Age-Dependent Alterations of the Lysosomal Proteome in a Mouse Model of Metachromatic Leukodystrophy.

A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity.

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.

Exploration of phytoconstituents of Medhya Rasayana herbs to identify potential inhibitors for cerebroside sulfotransferase through high-throughput screening.

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model.

Screening of phytoconstituents from Bacopa monnieri (L.) Pennell and Mucuna pruriens (L.) DC. to identify potential inhibitors against Cerebroside sulfotransferase.

Phytoconstituents of Withania somnifera (L.) Dunal (Ashwagandha) unveiled potential cerebroside sulfotransferase inhibitors: insight through virtual screening, molecular dynamics, toxicity, and reverse pharmacophore analysis.

Long-term lineage commitment in haematopoietic stem cell gene therapy.

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Hematopoietic stem cell transplantation in leukodystrophies.

Lysosomal storage diseases.

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures.

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

[Marketing authorisation for rare diseases: The European regulatory perspective using the example of gene and cell therapies].

Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.

Very early onset dementias: Importance of differentiating from schizophrenia spectrum disorders.

Glial Origins of Inherited White Matter Disorders.

Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.

Metachromatic leukodystrophy in infant presenting as acute febrile illness: a case report.

International Society for Cell & Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy.

Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.

New Gene Therapy Changes Treatment Landscape for Metachromatic Leukodystrophy.

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.

Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy.

Metachromatic leukodystrophy: A story of hope woven from sorrow.

Orchard Therapeutics Gains First U.S. Approval for a Metachromatic Leukodystrophy Gene Therapy.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases.

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.

FDA approves gene therapy for metachromatic leukodystrophy, the tenth for a genetic disease and the priciest yet.

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review.

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child.

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.

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.

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study.

In Silico Structural Modeling and Binding Site Analysis of Cerebroside Sulfotransferase (CST): A Therapeutic Target for Developing Substrate Reduction Therapy for Metachromatic Leukodystrophy.

Viral Vectors in Gene Replacement Therapy.

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy.

The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

A systematic review on the birth prevalence of metachromatic leukodystrophy.

Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series.

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.

The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy.

Atidarsagene autotemcel for metachromatic leukodystrophy.

Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia.

Progress in leukodystrophies with zebrafish.

Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter.

Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.

Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy.

A comprehensive review on structural and therapeutical insight of Cerebroside sulfotransferase (CST) - An important target for development of substrate reduction therapy against metachromatic leukodystrophy.

Early discoveries on enzyme deficiencies in lysosomal storage diseases: The Indian contribution.

Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy.

Gene therapy for neurodegenerative disorders in children: dreams and realities.

Gene and Cellular Therapies for Leukodystrophies.

Elucidating the Therapeutic Utility of Olaparib in Sulfatide-Induced Human Astrocyte Toxicity and Neuroinflammation.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.

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.

Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report.

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.

A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead.

Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy.

Engineered arylsulfatase A with increased activity, stability and brain delivery for therapy of metachromatic leukodystrophy.

A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel.

Stagger along the Corpus Callosum - A Rare form of Adult Metachromatic Leukodystrophy.

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report.

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.

Olaparib Attenuates Demyelination and Neuroinflammation in an Organotypic Slice Culture Model of Metachromatic Leukodystrophy.

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

Evaluating meaningful changes in physical functioning and cognitive declines in metachromatic leukodystrophy: a caregiver interview study.

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.

Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.

Metachromatic leukodystrophy: To screen or not to screen?

Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs.

An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

A zebrafish model of combined saposin deficiency identifies acid sphingomyelinase as a potential therapeutic target.

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

Preserving Ambulation in a Gene Therapy-Treated Girl Affected by Metachromatic Leukodystrophy: A Case Report.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy.

Basal nuclei are not involved in early metachromatic leukodystrophy.

Single Systemic Administration of a Gene Therapy Leading to Disease Treatment in Metachromatic Leukodystrophy Arsa Knock-Out Mice.

Combined saposin deficiency: A rare occurrence.

Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation.

Gene Therapy of Sphingolipid Metabolic Disorders.

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.

Infantile Metachromatic Leukodystrophy (MLD): A Rare Case.

Expression of prosaposin and its G protein-coupled receptor (GPR) 37 in mouse cochlear and vestibular nuclei.

MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation.

Basal nuclei lesions and cholecystitis as initial findings of late infantile metachromatic leukodystrophy.

Early recognition of patients with leukodystrophies.

Experiences of patients and their family members with metachromatic leukodystrophy, adrenoleukodystrophy, and Krabbe disease: a qualitative systematic review protocol.

Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.

Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease.

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.

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.

Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy.

Phenotypic continuum of NFU1-related disorders.

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.

Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.

[Analysis of genetic variant in a patient with juvenile meterochromic leukodystrophy].

Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.

A Versatile and Scalable Platform That Streamlines Data Collection for Patient-Centered Studies: Usability and Feasibility Study.

Clinical Reasoning: A 23-Year-Old Woman Presenting With Cognitive Impairment and Gait Disturbance.

An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.

Pearls & Oy-sters: Tumefactive Demyelinating Lesions With MOG Antibodies Preceding Late Infantile Metachromatic Leukodystrophy.

Segmentation of intrinsically very low contrast magnetic resonance brain images using tensor-based DTI registration.

Diagnostic Overshadowing: Insidious Neuroregression Mimicking Presentation of Autism Spectrum Disorder.

A model of metformin mitochondrial metabolism in metachromatic leukodystrophy: first description of human Schwann cells transfected with CRISPR-Cas9.

Analysis of Fertility Preservation by Ovarian Tissue Cryopreservation in Pediatric Children in China.

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.

Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells.

Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over Two Decades.

Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies.

New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders.