Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. (Q35571515)

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16 January 2020

title

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

1 reference

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16 January 2020

0 references

5

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16 January 2020

Encarna Guillén Navarro

8

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16 January 2020

Allan M Lund

17

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16 January 2020

Anna Tylki-Szymańska

22

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16 January 2020

Jiri Zeman

25

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16 January 2020

author name string

Maurizio Scarpa

1

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16 January 2020

Zsuzsanna Almássy

2

1 reference

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16 January 2020

Michael Beck

3

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16 January 2020

Olaf Bodamer

4

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16 January 2020

Linda De Meirleir

6

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16 January 2020

Nathalie Guffon

7

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16 January 2020

Pauline Hensman

9

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16 January 2020

Simon Jones

10

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16 January 2020

Wolfgang Kamin

11

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16 January 2020

Christoph Kampmann

12

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16 January 2020

Christina Lampe

13

1 reference

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16 January 2020

Christine A Lavery

14

1 reference

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16 January 2020

Elisa Leão Teles

15

1 reference

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16 January 2020

Bianca Link

16

1 reference

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16 January 2020

Gunilla Malm

18

1 reference

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16 January 2020

Susanne Pitz

19

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16 January 2020

Michael Rothera

20

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16 January 2020

Catherine Stewart

21

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16 January 2020

Ans van der Ploeg

23

1 reference

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16 January 2020

Robert Walker

24

1 reference

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16 January 2020

James E Wraith

26

1 reference

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16 January 2020

Hunter Syndrome Europena Expert Council

27

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16 January 2020

publication date

7 November 2011

1 reference

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Orphanet Journal of Rare Diseases

16 January 2020

published in

1 reference

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16 January 2020

volume

6

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16 January 2020

page(s)

72

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Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey

16 January 2020

cites work

1 reference

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Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

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Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey

27 July 2018

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Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.

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Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation

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Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

27 July 2018

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Growth patterns and the use of growth hormone in the mucopolysaccharidoses

27 July 2018

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Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution

27 July 2018

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Novel treatments and future perspectives: outcomes of intrathecal drug delivery.

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Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).

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IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice

27 July 2018

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Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

27 July 2018

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The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

27 July 2018

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Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation

27 July 2018

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Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed

27 July 2018

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Diagnosis and management of respiratory involvement in Hunter syndrome

27 July 2018

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Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

27 July 2018

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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

27 July 2018

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The heart in Anderson-Fabry disease and other lysosomal storage disorders.

27 July 2018

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A clinical study of 77 patients with mucopolysaccharidosis type II

27 July 2018

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Recombinant growth hormone for children and adolescents with Turner syndrome

27 July 2018

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A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

27 July 2018

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Mucopolysaccharidoses and the eye.

27 July 2018

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Otorhinolaryngological manifestations of the mucopolysaccharidoses.

27 July 2018

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27 July 2018

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The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome

27 July 2018

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Disordered breathing during sleep in patients with mucopolysaccharidoses.

27 July 2018

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27 July 2018

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Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders

27 July 2018

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27 July 2018

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Incidence of the mucopolysaccharidoses in Northern Ireland

27 July 2018

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Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses

27 July 2018

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Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II).

27 July 2018

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Anaesthesia for children with mucopolysaccharidoses.

27 July 2018

1 reference

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Bone marrow transplantation in Hunter syndrome.

27 July 2018

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27 July 2018

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Tracheobronchomalacia in Hunter's syndrome.

27 July 2018

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Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase

27 July 2018

1 reference

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Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases

27 July 2018

1 reference

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Hydrocephalus and pseudotumour cerebri in the mucopolysaccharidoses

27 July 2018

1 reference

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Anaesthesia and mucopolysaccharidoses. A review of airway problems in children

27 July 2018

1 reference

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Long-term follow-up of a patient transplanted for Hunter's disease type IIB: a case report and literature review.

27 July 2018

1 reference

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Bone marrow transplantation in Hunter syndrome (mucopolysaccharidosis type II): two-year follow-up of the first Italian patient and review of the literature

27 July 2018

1 reference

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Mild form of Hunter's syndrome: clinical delineation based on 31 cases

27 July 2018

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Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene

27 July 2018

1 reference

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The natural history of the severe form of Hunter's syndrome: a study based on 52 cases.

27 July 2018

1 reference

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Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation

27 July 2018

1 reference

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Ocular manifestations of the mucopolysaccharidoses

27 July 2018

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The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

27 July 2018

1 reference

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Two cases of Hunter's syndrome--the anaesthetic and operative difficulties in oral surgery.

27 July 2018

1 reference

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Upper airway obstruction in Hunter syndrome

27 July 2018

1 reference

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Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders

27 July 2018

1 reference

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Successful use of nasal-CPAP for obstructive sleep apnea in Hunter syndrome with diffuse airway involvement.

27 July 2018

1 reference

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Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

27 July 2018

1 reference

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Hunter syndrome presenting as macrocephaly and hydrocephalus

27 July 2018

1 reference

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Lumbar kyphosis in Hunter's disease (MPS II)

27 July 2018

1 reference

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Evaluation of disease severity in mucopolysaccharidoses.

27 July 2018

1 reference

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Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.

26 September 2018

1 reference

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Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey

26 September 2018

1 reference

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Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.

26 September 2018

1 reference

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Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation.

26 September 2018

1 reference

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The management of children with Hunter syndrome - a case study.

26 September 2018

1 reference

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Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years.

26 September 2018

1 reference

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Initial report from the Hunter Outcome Survey

26 September 2018

1 reference

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Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

26 September 2018

1 reference

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Home therapy for lysosomal storage disorders

26 September 2018

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Identifiers

DOI

10.1186/1750-1172-6-72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22059643%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

16 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22059643%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

22059643

1 reference