Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice

(2012) B. Kowalewski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

(2011) Marli V. Camelier et al.   CLINICA CHIMICA ACTA

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis

(2011) Lisa Imundo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene

(2011) I. Gottwald et al.   MOLECULAR GENETICS AND METABOLISM

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

(2011) Adviye A. Tolun et al.   MOLECULAR GENETICS AND METABOLISM

Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization–tandem mass spectrometry: Application to Hunter syndrome

(2010) Timothy C. Nielsen et al.   ANALYTICAL BIOCHEMISTRY

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

(2010) Trisha A. Duffey et al.   ANALYTICAL CHEMISTRY

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

(2010) Brian J. Wolfe et al.   ANALYTICAL CHEMISTRY

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship

(2010) Generoso Andria et al.   CLINICAL GENETICS

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI

(2010) Christiane Auray-Blais et al.   MOLECULAR GENETICS AND METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

(2009) Shunji Tomatsu et al.   MOLECULAR GENETICS AND METABOLISM

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

(2008) S. Blanchard et al.   CLINICAL CHEMISTRY