Morquio B disease: From pathophysiology towards diagnosis

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

(2018) Anna Caciotti et al.   BMC Medical Genetics

Mucopolysaccharidosis IVA and glycosaminoglycans

(2017) Shaukat Khan et al.   MOLECULAR GENETICS AND METABOLISM

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

(2015) Anna Caciotti et al.   HUMAN MUTATION

Diagnosing mucopolysaccharidosis IVA

(2013) Timothy C. Wood et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Defined Methodology for Reliable Quantification of Western Blot Data

(2013) Sean C. Taylor et al.   MOLECULAR BIOTECHNOLOGY

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

(2013) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

(2013) C.J. Hendriksz et al.   MOLECULAR GENETICS AND METABOLISM

A new lysosomal storage disorder resembling Morquio syndrome in sibs

(2012) Laurence Perrin et al.   European Journal of Medical Genetics

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

(2011) Anna Caciotti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Crystal Structure of Human β-Galactosidase

(2011) Umeharu Ohto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers

(2011) Lisa Martell et al.   Orphanet Journal of Rare Diseases

Validation of an LC–MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome

(2011) Lisa Argento Martell et al.   Bioanalysis

Heterogeneity of Morquio disease

(2010) M. Beck et al.   CLINICAL GENETICS

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency

(2010) John S. O'Brien et al.   CLINICAL GENETICS

Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0

(2009) Yves Dehouck et al.   BIOINFORMATICS

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

(2009) Doris Hofer et al.   HUMAN MUTATION

GALNS gene expression profiling in Morquio A patients' fibroblasts

(2008) L. Carraresi et al.   CLINICA CHIMICA ACTA

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

(2008) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM