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

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

(2014) Christian J. Hendriksz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

(2014) A. Morrone et al.   MOLECULAR GENETICS AND METABOLISM

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

(2013) I. Andolfo et al.   BLOOD

Aminoacylase I deficiency due to ACY1 mRNA exon skipping

(2013) L. Ferri et al.   CLINICAL GENETICS

Diagnosing mucopolysaccharidosis IVA

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

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

Newborn screening and diagnosis of mucopolysaccharidoses

(2013) Shunji Tomatsu et al.   MOLECULAR GENETICS AND METABOLISM

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

(2013) Vũ Chí Dũng et al.   MOLECULAR GENETICS AND METABOLISM

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

(2013) C. Bae et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis

(2012) Mauno Vihinen   HUMAN MUTATION

Intellectual and neurological functioning in Morquio syndrome (MPS IVa)

(2012) J. E. Davison et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

(2012) Yadilette Rivera-Colón et al.   JOURNAL OF MOLECULAR BIOLOGY

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

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

Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review

(2011) S. Tomatsu et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

(2011) David N. Cooper et al.   HUMAN MUTATION

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

(2010) T. Khaliq et al.   CLINICAL CHEMISTRY

Enhancement of Drug Delivery: Enzyme-replacement Therapy for Murine Morquio A Syndrome

(2010) Shunji Tomatsu et al.   MOLECULAR THERAPY

A series of PDB related databases for everyday needs

(2010) R. P. Joosten et al.   NUCLEIC ACIDS RESEARCH

Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice

(2010) Melita Dvorak-Ewell et al.   PLoS One

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Growth charts for patients affected with Morquio A disease

(2008) Adriana M. Montaño et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GALNS gene expression profiling in Morquio A patients' fibroblasts

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