Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. (Q37515209)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1

Ralph S Lachman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Barbara K Burton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Scott Hoffinger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Shiro Ikegawa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Dong-Kyu Jin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Hiroki Kano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Ok-Hwa Kim

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Christina Lampe

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Nancy J Mendelsohn

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Renée Shediac

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Pranoot Tanpaiboon

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Klane K White

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

publication date

4 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

359-369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 2.0 Generic

4 March 2020

copyright license

start time

4 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00256-013-1797-y

0 references

cites work

Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Diagnosing mucopolysaccharidosis IVA

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Mucopolysaccharidosis VI.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Morquio syndrome: diagnosis in an adult

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Management guidelines for mucopolysaccharidosis VI.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Therapy for the mucopolysaccharidoses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Overview of the mucopolysaccharidoses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Improved diagnostic procedures in attenuated mucopolysaccharidosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Expert recommendations for the laboratory diagnosis of MPS VI.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Radiologic and neuroradiologic findings in the mucopolysaccharidoses.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Nosology and classification of genetic skeletal disorders: 2010 revision.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901942

Dysplasia Epiphysealis Capitis Femoris: A Clinical-radiological Syndrome and its Relationship to Legg-Calvé-Perthes Disease

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00256-013-1797-Y

Morquio disease in a patient diagnosed as having Perthes disease for 38 years

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24389823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24389823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24389823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00256-013-1797-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24389823%20AND%20SRC:MED&resulttype=core&format=json