(Q37821471)

23 August 2017

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title

Disease registries and outcomes research in children: focus on lysosomal storage disorders (English)

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23 August 2017

Simon Jones

1

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23 August 2017

Emma James

series ordinal

2

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23 August 2017

Suyash Prasad

series ordinal

3

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23 August 2017

language of work or name

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1 February 2011

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23 August 2017

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23 August 2017

volume

13

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23 August 2017

issue

1

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23 August 2017

page(s)

33-47

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https://scigraph.springernature.com/pub.10.2165/11586860-000000000-00000

23 August 2017

exact match

0 references

cites work

Unlicensed and off label drug use in paediatric wards: prospective study

1 reference

Crossref

https://api.crossref.org/works/10.2165%2F11586860-000000000-00000

Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care

21 January 2018

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https://api.crossref.org/works/10.2165%2F11586860-000000000-00000

Therapeutic goals in the treatment of Fabry disease.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.2165%2F11586860-000000000-00000

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

21 January 2018

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12 December 2020

Delivering better medicines to children: need for better integration between the science, the policy, and the practice

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The European paediatric initiative: 1 year of experience.

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Evaluating health-related quality-of-life studies in paediatric populations: some conceptual, methodological and developmental considerations and recent applications

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The contemporary management of prostate cancer in the United States: lessons from the cancer of the prostate strategic urologic research endeavor (CapSURE), a national disease registry

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12 December 2020

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

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12 December 2020

Protection of human subjects with disability: guidelines for research

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12 December 2020

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

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12 December 2020

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

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12 December 2020

Pharmacogenetics of Drug Metabolising Enzymes: Importance for Personalised Medicine

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12 December 2020

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

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12 December 2020

Rare disease research gets boost

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12 December 2020

The global alliance for pediatric pharmacology: the future is here and now.

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12 December 2020

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

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12 December 2020

Malformation risks of antiepileptic drugs in pregnancy: a prospective study from the UK Epilepsy and Pregnancy Register

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12 December 2020

Rare childhood diseases: how should we respond?

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12 December 2020

Presentation and disease course in early- compared to later-onset pediatric Crohn's disease

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12 December 2020

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

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12 December 2020

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

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12 December 2020

Management guidelines for mucopolysaccharidosis VI.

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12 December 2020

Niemann-Pick disease type C

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12 December 2020

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

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12 December 2020

Chronic kidney disease in children: the global perspective

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12 December 2020

The effects of corticosteroids on bone growth and bone density

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12 December 2020

Unlicensed and off label drug use in neonates

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12 December 2020

Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.

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12 December 2020

The National Institute for Health Research Medicines for Children Research Network

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12 December 2020

Initial report from the Hunter Outcome Survey

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12 December 2020

Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).

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12 December 2020

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis

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12 December 2020

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study

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12 December 2020

The metabolism of glucocerebrosides. 3. Purification and properties of a glucosyl- and galactosylceramide-cleaving enzyme from rat intestinal tissue.

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Evidence-based medicine for rare diseases: implications for data interpretation and clinical trial design

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12 December 2020

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

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Challenges in pediatric drug development: a pharmaceutical industry perspective.

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Pediatric formulations: international issues and potential solutions

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12 December 2020

Implant survival after primary total hip arthroplasty due to childhood hip disorders: results from the Danish Hip Arthroplasty Registry.

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Giant-cell arteritis mimicking carcinoma of the breast

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12 December 2020

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

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12 December 2020

Age adjusting severity scores for Anderson-Fabry disease

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12 December 2020

Unlicensed and off label prescribing of drugs in general practice

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12 December 2020

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

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12 December 2020

Impact of common genetic variation on neonatal disease and outcome

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12 December 2020

One-year cardiovascular event rates in outpatients with atherothrombosis.

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12 December 2020

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

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12 December 2020

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

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12 December 2020

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial

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12 December 2020

The EU's new paediatric medicines legislation: serving children's needs?

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12 December 2020

A randomized study of alglucosidase alfa in late-onset Pompe's disease

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12 December 2020

Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease

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12 December 2020

Interaction between PPARA genotype and beta-blocker treatment influences clinical outcomes following acute coronary syndromes

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12 December 2020

Intelligence and behaviour in children with early treated phenylketonuria. A report from the MRC/DHSS phenylketonuria register

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12 December 2020

Effects of prenatal dexamethasone treatment on physical growth, pituitary-adrenal hormones, and performance of motor, motivational, and cognitive tasks in juvenile and adolescent common marmoset monkeys.

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12 December 2020

Behavior disturbance in 8-year-old children with early treated phenylketonuria

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12 December 2020

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

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12 December 2020

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

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12 December 2020

Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry

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12 December 2020

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world

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12 December 2020

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

1 reference

12 December 2020

Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey.

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12 December 2020

Management of epilepsy during pregnancy

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12 December 2020

Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register

1 reference

12 December 2020

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

1 reference

12 December 2020

Enzyme replacement therapy and renal function in 201 patients with Fabry disease.

1 reference

12 December 2020

Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.

1 reference

12 December 2020

Impacts of national surveillance for uncommon conditions in childhood.

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12 December 2020

A multi-centre, randomised, open-label study of atomoxetine compared with standard current therapy in UK children and adolescents with attention-deficit/hyperactivity disorder (ADHD).

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry

1 reference

12 December 2020

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

1 reference

12 December 2020

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey.

1 reference

12 December 2020

Predicting response to TNF antagonists in rheumatoid arthritis: the promise of pharmacogenetics research using clinical registries

1 reference

12 December 2020

10.2165/11586860-000000000-00000

Identifiers

DOI

1 reference

Dimensions Publication ID

23 August 2017

1023565293

0 references

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