Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA (Q88741300)

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27 March 2020

title

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA (English)

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27 March 2020

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27 March 2020

Hira Peracha

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27 March 2020

Kazuki Sawamoto

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27 March 2020

Lauren Averill

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27 March 2020

Heidi Kecskemethy

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27 March 2020

Mary Theroux

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27 March 2020

Mihir Thacker

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27 March 2020

Christian Pizarro

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27 March 2020

William Mackenzie

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27 March 2020

Hironori Kobayashi

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27 March 2020

Seiji Yamaguchi

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27 March 2020

Yasuyuki Suzuki

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27 March 2020

Kenji Orii

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27 March 2020

Tadao Orii

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27 March 2020

Toshiyuki Fukao

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27 March 2020

Shunji Tomatsu

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27 March 2020

publication date

15 May 2018

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Molecular Genetics and Metabolism

27 March 2020

published in

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27 March 2020

volume

125

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27 March 2020

issue

1-2

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27 March 2020

page(s)

18-37

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Cartilage and bone extracellular matrix.

27 March 2020

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Role of elosulfase alfa in mucopolysaccharidosis IVA

7 January 2021

1 reference

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Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

7 January 2021

1 reference

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Early-onset osteoporosis with high bone turnover in children with Morquio-Brailsford syndrome

7 January 2021

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Secondary skeletal involvement in Sanfilippo syndrome

7 January 2021

1 reference

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Bone mineral density in feline mucopolysaccharidosis VI measured using dual-energy X-ray absorptiometry

7 January 2021

1 reference

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Bone mineral density in MPS IV A (Morquio syndrome type A).

7 January 2021

1 reference

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Children with spina bifida are at risk for low bone density

7 January 2021

1 reference

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The relationship between fractures and DXA measures of BMD in the distal femur of children and adolescents with cerebral palsy or muscular dystrophy

7 January 2021

1 reference

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Bone density and metabolism in children and adolescents with moderate to severe cerebral palsy

7 January 2021

1 reference

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Lower extremity bone mineral density in children with congenital spinal dysfunction

7 January 2021

1 reference

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Hand dexterity in children: administration and normative values of the functional dexterity test

7 January 2021

1 reference

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Efficacy of clinical gait analysis: A systematic review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Activity of daily living for Morquio A syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Growth impairment in mucopolysaccharidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Growth charts for patients affected with Morquio A disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

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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

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Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy termination

7 January 2021

1 reference

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Mechanism of shortened bones in mucopolysaccharidosis VII

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

7 January 2021

1 reference

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Rare causes of scoliosis and spine deformity: experience and particular features

7 January 2021

1 reference

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Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita

7 January 2021

1 reference

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Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Does proximal femoral varus osteotomy in Legg-Calvé-Perthes disease predispose to angular mal-alignment of the knee? A clinical and radiographic study at skeletal maturity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

7 January 2021

inferred from DOI database lookup

Histopathological studies of the temporal bones in Hurler's disease [mucopolysaccharidosis (MPS) IH].

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2018.05.004

7 January 2021

inferred from DOI database lookup

Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis

1 reference

12 December 2020

Hearing Patterns in Morquio's Syndrome (Mucopolysaccharidosis IV)

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

The management of otolaryngological problems in the mucopolysaccharidoses: a retrospective review

1 reference

12 December 2020

Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion

1 reference

12 December 2020

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses

1 reference

12 December 2020

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

1 reference

12 December 2020

Exercise testing in children with congenital heart disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience

1 reference

12 December 2020

Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss.

1 reference

12 December 2020

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

1 reference

12 December 2020

Development of the Functional Dexterity Test (FDT): construction, validity, reliability, and normative data.

1 reference

12 December 2020

A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B

1 reference

12 December 2020

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).

1 reference

12 December 2020

Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA)

1 reference

12 December 2020

Morquio's syndrome: severe aortic regurgitation and late pulmonary autograft failure.

1 reference

12 December 2020

Tracheomalacia in an adult with respiratory failure and Morquio syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucopolysaccharidosis VI.

1 reference

12 December 2020

Bone density assessment in patients with mucopolysaccharidosis: A preliminary report from patients with MPS II and VI.

1 reference

12 December 2020

Mortality in patients with morquio syndrome a.

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12 December 2020

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

1 reference

12 December 2020

The epidemiology and demographics of legg-calvé-perthes' disease

1 reference

12 December 2020

Morquio A syndrome: diagnosis and current and future therapies

1 reference

12 December 2020

Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB.

1 reference

12 December 2020

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

1 reference

12 December 2020

Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis.

1 reference

12 December 2020

10.1016/J.YMGME.2018.05.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29779902%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29779902%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

PubMed publication ID

29779902

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29779902%20AND%20SRC:MED&resulttype=core&format=json