(Q59340075)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

review article

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title

Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

main subject

mucopolysaccharidosis

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17 June 2019

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2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

author name string

Miriam Rigoldi

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

Raffaele Manna

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

Maria Teresa Mascia

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

language of work or name

English

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publication date

16 November 2018

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25 April 2019

17 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

Italian Journal of Paediatrics

3 May 2020

published in

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17 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

page(s)

132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

issue

Suppl 2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

3 May 2020

copyright license

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on focus list of Wikimedia project

17 June 2019

ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/s13052-018-0551-4

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cites work

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

1 reference

12 December 2020

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

1 reference

12 December 2020

Clinical and biochemical manifestations of hyaluronidase deficiency

1 reference

12 December 2020

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.

1 reference

12 December 2020

Mucopolysaccharidoses and the eye.

1 reference

12 December 2020

Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome

1 reference

12 December 2020

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

1 reference

12 December 2020

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)

1 reference

12 December 2020

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

1 reference

12 December 2020

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

1 reference

12 December 2020

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

1 reference

12 December 2020

Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis

1 reference

12 December 2020

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.

1 reference

12 December 2020

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

1 reference

12 December 2020

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

1 reference

12 December 2020

Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses

1 reference

12 December 2020

Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options

1 reference

12 December 2020

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

1 reference

12 December 2020

Musculoskeletal manifestations of mucopolysaccharidoses.

1 reference

12 December 2020

Respiratory and sleep disorders in mucopolysaccharidosis

1 reference

12 December 2020

Mild mental retardation and low levels of urinary heparan sulfate in a patient with the attenuated phenotype of mucopolysaccharidosis type IIIA.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucopolysaccharidoses and mucolipidoses

1 reference

12 December 2020

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

1 reference

12 December 2020

Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

1 reference

12 December 2020

Management of otolaryngological manifestations in mucopolysaccharidoses: our experience.

1 reference

12 December 2020

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

1 reference

12 December 2020

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

1 reference

12 December 2020

The natural history of MPS I: global perspectives from the MPS I Registry

1 reference

12 December 2020

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

1 reference

12 December 2020

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

1 reference

12 December 2020

Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy

1 reference

12 December 2020

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

1 reference

12 December 2020

Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses

1 reference

12 December 2020

Obstructive airway in Morquio A syndrome, the past, the present and the future.

1 reference

12 December 2020

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

1 reference

12 December 2020

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

1 reference

12 December 2020

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

1 reference

12 December 2020

Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses

1 reference

12 December 2020

The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences.

1 reference

12 December 2020

Anesthesiological risks in mucopolysaccharidoses

1 reference

12 December 2020

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

1 reference

12 December 2020

Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists

1 reference

12 December 2020

Ocular features in mucopolysaccharidosis: diagnosis and treatment

1 reference

12 December 2020

10.1186/S13052-018-0551-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 May 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30442171%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

1 reference