Biochemical signatures of disease severity in multiple sulfatase deficiency

Preclinical studies to support the intrathecal delivery of scAAV9/SUMF1 as a gene replacement therapy for multiple sulfatase deficiency

(2021) Rachel M. Bailey et al.   MOLECULAR GENETICS AND METABOLISM

Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatment of Sanfilippo type B

(2020) Anita Grover et al.   Drug Delivery and Translational Research

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts

(2020) Hamid Khaledi et al.   ANALYTICAL CHEMISTRY

A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

(2020) Lars Schlotawa et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

(2020) Laura A. Adang et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

(2019) Julie B. Eisengart et al.   GENETICS IN MEDICINE

Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I

(2019) Moin U. Vera et al.   MOLECULAR GENETICS AND METABOLISM

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

(2018) Rebecca Ahrens-Nicklas et al.   MOLECULAR GENETICS AND METABOLISM

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

(2018) Lars Schlotawa et al.   Cell Reports

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

(2018) Jennifer T. Saville et al.   GENETICS IN MEDICINE

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

(2015) Joyce E. Fox et al.   MOLECULAR GENETICS AND METABOLISM

Glycan-based biomarkers for mucopolysaccharidoses

(2013) Roger Lawrence et al.   MOLECULAR GENETICS AND METABOLISM

Disease-specific non–reducing end carbohydrate biomarkers for mucopolysaccharidoses

(2012) Roger Lawrence et al.   Nature Chemical Biology

A Comprehensive Compositional Analysis of Heparin/Heparan Sulfate-Derived Disaccharides from Human Serum

(2011) Wei Wei et al.   ANALYTICAL CHEMISTRY

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

(2011) Lars Schlotawa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder

(2011) Carmine Spampanato et al.   MOLECULAR THERAPY

Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy

(2010) CHRISTIANE KEHRER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Disaccharide structure code for the easy representation of constituent oligosaccharides from glycosaminoglycans

(2008) Roger Lawrence et al.   NATURE METHODS