Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design

(2016) K.V. Truxal et al.   MOLECULAR GENETICS AND METABOLISM

Endocannabinoids and sleep

(2016) Oscar Prospéro-García et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery

(2016) Haiyan Fu et al.   Molecular Therapy-Methods & Clinical Development

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

(2015) Carla Martins et al.   BRAIN

A Metabolome-Wide Association Study of Kidney Function and Disease in the General Population

(2015) P. Sekula et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice

(2015) F Jason Duncan et al.   MOLECULAR THERAPY

Significant elevations of serum lipase not caused by pancreatitis: a systematic review

(2015) Ahmer M. Hameed et al.   HPB

Fibrinogen and factor XIII at the intersection of coagulation, fibrinolysis and inflammation

(2014) Berthold Hoppe   THROMBOSIS AND HAEMOSTASIS

Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease

(2013) Ana Sergijenko et al.   MOLECULAR THERAPY

Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood

(2013) Bartholomew J. Naughton et al.   PLoS One

Gene Therapy Approaches for Lysosomal Storage Disease: Next-Generation Treatment

(2012) Barry J. Byrne et al.   HUMAN GENE THERAPY

Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice

(2012) Alexander Langford-Smith et al.   MOLECULAR THERAPY

Disease-specific non–reducing end carbohydrate biomarkers for mucopolysaccharidoses

(2012) Roger Lawrence et al.   Nature Chemical Biology

Differential distribution of heparan sulfate glycoforms and elevated expression of heparan sulfate biosynthetic enzyme genes in the brain of mucopolysaccharidosis IIIB mice

(2011) Douglas M. McCarty et al.   METABOLIC BRAIN DISEASE

Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood–Brain Barrier Gene Delivery

(2011) Haiyan Fu et al.   MOLECULAR THERAPY

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome

(2011) Sophie E. Winder-Rhodes et al.   MOVEMENT DISORDERS

Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B

(2011) Kazuhiro Ohmi et al.   PLoS One

Therapy for the mucopolysaccharidoses

(2011) V. Valayannopoulos et al.   RHEUMATOLOGY

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

(2010) Kia Jane Langford-Smith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Correction: The Dopamine Metabolite 3-Methoxytyramine Is a Neuromodulator

(2010) Tatyana D. Sotnikova et al.   PLoS One

Mucopolysaccharidosis IIIB: Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis

(2009) Guglielmo R.D. Villani et al.   BRAIN RESEARCH

Metabolic Adaptations to Interrupted Glycosaminoglycan Recycling

(2009) Josh C. Woloszynek et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry

(2009) Clare E. Beesley et al.   MOLECULAR GENETICS AND METABOLISM

Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons

(2009) Sandra Duque et al.   MOLECULAR THERAPY

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

(2009) K. Ohmi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CNS-directed gene therapy for lysosomal storage diseases

(2008) Mark S Sands et al.   ACTA PAEDIATRICA

Innate and adaptive immune activation in the brain of MPS IIIB mouse model

(2008) Julianne DiRosario et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

(2008) Derrick R. Randall et al.   MOLECULAR GENETICS AND METABOLISM

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY