Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients

(2021) Francesca Fumagalli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice

(2021) Emilie Audouard et al.   Frontiers in Molecular Neuroscience

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

(2020) Xinying Hong et al.   ANALYTICAL CHEMISTRY

Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial

(2020) Christine í Dali et al.   MOLECULAR GENETICS AND METABOLISM

Association of age at onset and first symptoms with disease progression in patients with metachromatic leukodystrophy

(2020) Christiane Kehrer et al.   NEUROLOGY

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

(2020) Xinying Hong et al.   GENETICS IN MEDICINE

Phenotypic variation between siblings with Metachromatic Leukodystrophy

(2019) Saskia Elgün et al.   Orphanet Journal of Rare Diseases

Autologous Stem-Cell-Based Gene Therapy for Inherited Disorders: State of the Art and Perspectives

(2019) Frank J. T. Staal et al.   Frontiers in Pediatrics

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism

(2019) Emily Y. Tan et al.   Frontiers in Pediatrics

Use of Defibrotide to help prevent post-transplant endothelial injury in a genetically predisposed infant with metachromatic leukodystrophy undergoing hematopoietic stem cell gene therapy

(2018) Valeria Calbi et al.   BONE MARROW TRANSPLANTATION

Intracerebral gene therapy in children with metachromatic leukodystrophy: Results of a phase I/II trial

(2018) Caroline Sevin et al.   MOLECULAR GENETICS AND METABOLISM

Gallbladder abnormalities in children with metachromatic leukodystrophy

(2017) Jina Kim et al.   JOURNAL OF SURGICAL RESEARCH

Intracerebroventricular delivery of hematopoietic progenitors results in rapid and robust engraftment of microglia-like cells

(2017) Alessia Capotondo et al.   Science Advances

Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe‐affected non‐human primates by intracerebral lentiviral gene therapy

(2016) Vasco Meneghini et al.   EMBO Molecular Medicine

Metachromatic Leukodystrophy

(2016) Florian S. Eichler et al.   JOURNAL OF CHILD NEUROLOGY

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

(2016) Samuel Groeschel et al.   JAMA Neurology

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

(2015) Diane F. van Rappard et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Abnormalities of acid–base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients

(2015) L. Lorioli et al.   MOLECULAR GENETICS AND METABOLISM

Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report

(2015) Alexander A. Boucher et al.   Orphanet Journal of Rare Diseases

Neurodevelopmental Outcomes of Umbilical Cord Blood Transplantation in Metachromatic Leukodystrophy

(2013) Holly R. Martin et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation

(2012) A. Capotondo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The natural course of gross motor deterioration in metachromatic leukodystrophy

(2011) CHRISTIANE KEHRER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Metachromatic Leukodystrophy – An Update

(2010) V. Gieselmann et al.   NEUROPEDIATRICS

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

(2009) A Biffi et al.   CLINICAL GENETICS