Sanfilippo syndrome: Overall review

Repeated Administrations of Human Umbilical Cord Blood Cells Improve Disease Outcomes in a Mouse Model of Sanfilippo Syndrome Type III B

(2014) Alison E. Willing et al.   CELL TRANSPLANTATION

Assessment of Sleep in Children with Mucopolysaccharidosis Type III

(2014) Louise Victoria Mahon et al.   PLoS One

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

(2013) Frits A Wijburg et al.   ACTA PAEDIATRICA

Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice

(2013) C D Heldermon et al.   GENE THERAPY

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver–Bucy syndrome

(2013) Michael Potegal et al.   JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY

Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

(2013) Leslie Matalonga et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders

(2013) E. M. Cross et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural history of Sanfilippo syndrome type A

(2013) Dakota Buhrman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: A new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders

(2013) G. Civallero et al.   MOLECULAR GENETICS AND METABOLISM

High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study

(2013) Jessica de Ruijter et al.   MOLECULAR GENETICS AND METABOLISM

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

Natural history of Sanfilippo syndrome in Spain

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

Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease

(2012) Magdalena Narajczyk et al.   GENE

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease

(2012) J. de Ruijter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID)

(2012) Sheena Grant et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Anaesthesia and airway management in mucopolysaccharidosis

(2012) Robert Walker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

(2012) Jessica de Ruijter et al.   MOLECULAR GENETICS AND METABOLISM

Abnormal Gangliosides are Localized in Lipid Rafts in Sanfilippo (MPS3a) Mouse Brain

(2012) G. Dawson et al.   NEUROCHEMICAL RESEARCH

Genistein in Sanfilippo disease: A randomized controlled crossover trial

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

Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Emerging Treatment Strategies

(2011) J. de Ruijter et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Musculoskeletal Manifestations of Sanfilippo Syndrome (Mucopolysaccharidosis Type III)

(2011) Klane K. White et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

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

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

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

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

(2010) Bénédicte Héron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

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

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

(2010) I Canals et al.   CLINICAL GENETICS

Restoration of central nervous system α-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery

(2010) Haiyan Fu et al.   JOURNAL OF GENE MEDICINE

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

Serum MIP-1 α level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

(2010) Paola Di Natale et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones

(2010) Audrey Arfi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

(2010) Shunji Tomatsu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

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

Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

(2010) Jaap J. Boelens et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

(2009) Carmela Di Domenico et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evaluation of heparin cofactor II–thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice

(2009) Kia Langford-Smith et al.   MOLECULAR GENETICS AND METABOLISM

Sanfilippo syndrome: A mini-review

(2008) M. J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

On-line separations combined with MS for analysis of glycosaminoglycans

(2008) Joseph Zaia   MASS SPECTROMETRY REVIEWS

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

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

Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses

(2007) Fernando Andrade et al.   CLINICA CHIMICA ACTA

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