Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study

Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy for metachromatic leukodystrophy

(2019) Heidi Simonis et al.   HUMAN MOLECULAR GENETICS

Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers

(2019) Magdalena Harrington et al.   Orphanet Journal of Rare Diseases

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

(2019) Shanice Beerepoot et al.   Orphanet Journal of Rare Diseases

Bridging barriers: a comparative look at the blood–brain barrier across organisms

(2018) Natasha M. O'Brown et al.   GENES & DEVELOPMENT

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

(2017) David Whiteman et al.   Drug Design Development and Therapy

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

(2016) D. F. van Rappard et al.   BLOOD

Emerging drugs for the treatment of mucopolysaccharidoses

(2016) Roberto Giugliani et al.   EXPERT OPINION ON EMERGING DRUGS

Therapies of lysosomal storage disorders targeting the brain

(2016) Ingeborg Krägeloh-Mann et al.   LANCET

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

Enzymes Approved for Human Therapy: Indications, Mechanisms and Adverse Effects

(2015) Brian A. Baldo   BIODRUGS

Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders

(2015) Cristan Farmer et al.   CHILD NEUROPSYCHOLOGY

Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

(2015) Martina Cesani et al.   HUMAN MUTATION

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

(2014) Christiane Kehrer et al.   Orphanet Journal of Rare Diseases

Intrathecal delivery of protein therapeutics to the brain: A critical reassessment

(2014) Pericles Calias et al.   PHARMACOLOGY & THERAPEUTICS

Pediatric Lumbar Puncture and Cerebrospinal Fluid Analysis

(2013) William Bonadio   JOURNAL OF EMERGENCY MEDICINE

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age

(2012) F. Matthes et al.   HUMAN MOLECULAR GENETICS

Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy

(2012) S. Groeschel et al.   NEUROLOGY

The natural course of gross motor deterioration in metachromatic leukodystrophy

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

Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy

(2011) S. Stroobants et al.   HUMAN MOLECULAR GENETICS

Motor and Sensory Conduction in Infancy and Childhood: Reappraisal

(2010) Anna Lise Wagner et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

THE GROSS MOTOR FUNCTION MEASURE: A MEANS TO EVALUATE THE EFFECTS OF PHYSICAL THERAPY

(2010) Dianne J. Russell et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Development and reliability of a system to classify gross motor function in children with cerebral palsy

(2010) Robert Palisano et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy

(2010) C. i Dali et al.   NEUROLOGY

Metachromatic Leukodystrophy – An Update

(2010) V. Gieselmann et al.   NEUROPEDIATRICS

Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations

(2009) F. Eichler et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Development of the Gross Motor Function Classification System for cerebral palsy

(2009) Peter L Rosenbaum et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy

(2009) Ulrich Matzner et al.   MOLECULAR THERAPY

Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options

(2008) Volkmar Gieselmann   ACTA PAEDIATRICA

Lysosomal Storage Diseases and the Blood-Brain Barrier

(2008) David Begley et al.   CURRENT PHARMACEUTICAL DESIGN