High dose genistein in Sanfilippo syndrome: A randomised controlled trial

Haematopoietic stem cell gene therapy with IL ‐1Ra rescues cognitive loss in mucopolysaccharidosis IIIA

(2020) Helen Parker et al.   EMBO Molecular Medicine

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

(2018) Julie Tordo et al.   BRAIN

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

(2018) Frits A. Wijburg et al.   MOLECULAR GENETICS AND METABOLISM

Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB

(2018) Chester B. Whitley et al.   MOLECULAR GENETICS AND METABOLISM

Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial

(2017) Marc Tardieu et al.   LANCET NEUROLOGY

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure

(2017) Johanna H. van der Lee et al.   MOLECULAR GENETICS AND METABOLISM

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

(2017) Arunabha Ghosh et al.   Orphanet Journal of Rare Diseases

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA

(2016) Elsa G. Shapiro et al.   JOURNAL OF PEDIATRICS

Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)

(2015) Rachel A. Mumford et al.   Journal of Neurodevelopmental Disorders

Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

(2015) Eveline J. Langereis et al.   MOLECULAR GENETICS AND METABOLISM

Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids

(2015) Marta Moskot et al.   Scientific Reports

Genistein and Cancer: Current Status, Challenges, and Future Directions

(2015) Carmela Spagnuolo et al.   Advances in Nutrition

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

(2014) Marc Tardieu et al.   HUMAN GENE THERAPY

The Phytoestrogen Genistein Modulates Lysosomal Metabolism and Transcription Factor EB (TFEB) Activation

(2014) Marta Moskot et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: Assessment of effects on cognitive functions and general status of patients

(2013) Ewa Piotrowska et al.   MEDICAL SCIENCE MONITOR

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

(2013) Katherine H. Kim et al.   MOLECULAR GENETICS AND METABOLISM

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

(2013) Ana Sergijenko et al.   MOLECULAR THERAPY

Natural history of Sanfilippo syndrome in Spain

(2013) Verónica Delgadillo et al.   Orphanet Journal of Rare Diseases

A Genetic Model of Substrate Reduction Therapy for Mucopolysaccharidosis

(2012) William C. Lamanna et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans

(2012) Minke H. de Ru et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genistein in Sanfilippo disease: A randomized controlled crossover trial

(2011) Jessica de Ruijter et al.   ANNALS OF NEUROLOGY

Assessment of Circadian Rhythms of Both Skin Temperature and Motor Activity in Infants During the First 6 Months of Life

(2011) Matilde Zornoza-Moreno et al.   CHRONOBIOLOGY INTERNATIONAL

Genistein supplementation in patients affected by Sanfilippo disease

(2011) Verónica Delgadillo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

(2011) Marlies J Valstar et al.   Orphanet Journal of Rare Diseases

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

(2010) Marlies J. Valstar et al.   ANNALS OF NEUROLOGY

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

(2010) E. Lukina et al.   BLOOD

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

(2010) Marlies J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease

(2010) Marcelina Malinowska et al.   PLoS One

Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease

(2009) Dariusz Dziedzic et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses

(2009) Xenia Kaidonis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

(2009) Marcelina Malinowska et al.   MOLECULAR GENETICS AND METABOLISM

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

(2008) Ewa Piotrowska et al.   CURRENT THERAPEUTIC RESEARCH-CLINICAL AND EXPERIMENTAL

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

(2007) G.J.G. Ruijter et al.   MOLECULAR GENETICS AND METABOLISM