Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII

Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII

(2016) Faez Iqbal Khan et al.   GENE

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

(2016) Francyne Kubaski et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

(2016) Adriana M Montaño et al.   JOURNAL OF MEDICAL GENETICS

Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC–MS/MS

(2016) Christiane Auray-Blais et al.   Bioanalysis

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

High Resolution Crystal Structure of Human β-Glucuronidase Reveals Structural Basis of Lysosome Targeting

(2013) Md. Imtaiyaz Hassan et al.   PLoS One

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

(2012) Catharina Whybra et al.   Orphanet Journal of Rare Diseases

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

(2011) Guilherme Baldo et al.   MOLECULAR GENETICS AND METABOLISM

Overview of the mucopolysaccharidoses

(2011) J. Muenzer   RHEUMATOLOGY

Mucopolysaccharidosis type VII (β-glucuronidase deficiency): a report of a new case and a survey of those in the literature

(2010) A. C. Sewell et al.   CLINICAL GENETICS

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

(2009) Hsiang-Yu Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

(2009) Shunji Tomatsu et al.   HUMAN MUTATION

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

(2008) Gunilla Malm et al.   ACTA PAEDIATRICA