(Q37126295)

18 August 2017

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA (English)

1 reference

18 August 2017

0 references

C J Hendriksz

1

1 reference

18 August 2017

P Harmatz

2

1 reference

18 August 2017

M Beck

3

1 reference

18 August 2017

S Jones

4

1 reference

18 August 2017

T Wood

5

1 reference

18 August 2017

R Lachman

6

1 reference

18 August 2017

C G Gravance

7

1 reference

18 August 2017

T Orii

8

1 reference

18 August 2017

S Tomatsu

9

1 reference

18 August 2017

10 April 2013

1 reference

Molecular Genetics and Metabolism

18 August 2017

1 reference

18 August 2017

110

1 reference

18 August 2017

1-2

1 reference

18 August 2017

54-64

1 reference

Current and emerging treatments and surgical interventions for Morquio A syndrome: a review

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Diagnosing mucopolysaccharidosis IVA

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

The lower extremity in Morquio syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Autophagy in lysosomal storage disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Ocular manifestations as key features for diagnosing mucopolysaccharidoses

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Skeletal dysplasias: evaluation with impulse oscillometry and thoracoabdominal motion analysis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Common and uncommon pathogenic cascades in lysosomal storage diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

14 September 2017

Case of Achondroplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mitochondrial Ca2+ homeostasis in lysosomal storage diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Autophagy, mitochondria and cell death in lysosomal storage diseases.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Osteo-chondrodystrophia deformans (Morquio Brailsford disease).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Morquio's disease; a review of the literature with a description of four cases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Upper airways abnormalities and tracheal problems in Morquio's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Prevalence of lysosomal storage disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Incidence of the mucopolysaccharidoses in Northern Ireland

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

The mucopolysaccharidoses: a clinical review and guide to management

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Impaired degradation of keratan sulphate by Morquio A fibroblasts

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Heterogeneity of Morquio disease.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

The mucopolysaccharidoses

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Aortic valve replacement in a patient with morquio syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

A review of Morquio syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses: corrective factors in nosology, genetics and therapy.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Anesthetic care and perioperative complications of children with Morquio syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Expert recommendations for the laboratory diagnosis of MPS VI.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Intellectual and neurological functioning in Morquio syndrome (MPS IVa).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Perioperative implications of Morquio syndrome in a 31-year-old woman undergoing aortic valve replacement.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Growth charts for patients affected with Morquio A disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Osteochondrodystrophy (Morquio-Brailsford type); occurrence in three siblings.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755102

20 October 2018

Chondro-osteo-dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Incidence of the mucopolysaccharidoses in Western Australia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

The enzymic defects in Morquio and Maroteaux-Lamy syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Morquio's disease: An abnormality of mucopolysaccharide metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

The genetic mucopolysaccharidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Ocular Changes in Mucopolysaccharidosis IV A (Morquio A Syndrome) and Long-Term Results of Perforating Keratoplasty

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

A rapid and micro method for separation of acidic glycosaminoglycans by two-dimensional electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Sequential thin layer chromatography of urinary acidic glycosaminglycans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Analytical and preparative separation of acidic glycosaminoglycans by electrophoresis in barium acetate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.002

[Corneal opacities and metabolic disorders in Morquio's disease]

7 January 2021

1 reference

12 December 2020

The classics: Chondro-osteo-dystrophy. roentgenographic and clinical features of a child with dislocation of vertebrae, James F. Brailsford, M.D.: Am. J. Surg. 7:404, 1929

1 reference

12 December 2020

1 reference

12 December 2020

Morquio's syndrome. A case report and review of clinical findings

1 reference

12 December 2020

10.1016/J.YMGME.2013.04.002

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23665161

1 reference