- Home
- Publications
- Publication Search
- Publication Details
Title
Morquio B disease: From pathophysiology towards diagnosis
Authors
Keywords
Morquio, Beta galactosidase, Keratan sulphate, Mucopolysaccharidosis, EBP, GLB1
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 132, Issue 3, Pages 180-188
Publisher
Elsevier BV
Online
2021-02-01
DOI
10.1016/j.ymgme.2021.01.008
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now