(Q37350401)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Fabry disease in children and the effects of enzyme replacement treatment (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

Guillem Pintos-Morell

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Michael Beck

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

1 reference

26 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

22 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

168

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

1355-1363

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00431-009-0937-9

22 January 2020

exact match

0 references

cites work

Management of neuropathic pain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Diagnosis of Fabry disease via analysis of family history

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Treatment of lysosomal storage disorders : progress with enzyme replacement therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Neuropsychological and behavioral effects of antiepilepsy drugs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

High incidence of later-onset fabry disease revealed by newborn screening

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

The heart in Anderson Fabry disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Renal pathological changes in Fabry disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

X-chromosome inactivation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Prevalence of lysosomal storage disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Cerebrovascular complications of Fabry's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

The Ocular Manifestations in Fabry's Disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

14 September 2017

Pediatric Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Recurrent acroparaesthesia during febrile infections

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Early renal changes in hemizygous and heterozygous patients with Fabry's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Impact of reduced heart rate variability on risk for cardiac events. The Framingham Heart Study.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Involvement of dorsal root ganglia in Fabry's disease.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Cardiac manifestations of Anderson-Fabry disease in children and adolescents

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Fabry disease: overall effects of agalsidase alfa treatment

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Cardiac manifestations of Anderson-Fabry disease in heterozygous females

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Quality of life of patients with Fabry disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

Stroke in Fabry's disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745529

[Fabry's disease: diagnosis in the pediatric age group]

2 September 2018

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

Manifestations of Fabry disease in placental tissue

1 reference

12 December 2020

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

1 reference

12 December 2020

Demonstration of Fabry's disease deposits in placenta

1 reference

12 December 2020

Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta

1 reference

12 December 2020

[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I]

1 reference

12 December 2020

Radiological evidence of early cerebral microvascular disease in young children with Fabry disease

1 reference

12 December 2020

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

1 reference

12 December 2020

Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry's disease

1 reference

12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

12 December 2020

The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease

1 reference

12 December 2020

Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients

1 reference

12 December 2020

Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria

1 reference

12 December 2020

10.1007/S00431-009-0937-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19242721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

19242721

1 reference