(Q38245997)

31 August 2017

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis (English)

1 reference

chronic renal insufficiency

31 August 2017

1 reference

1 reference

12

Sandrine Florquin

1 reference

31 August 2017

João Paulo Oliveira

5

0 references

Robin Lachmann

Robin H Lachmann

9

0 references

Liffert Vogt

Liffert Vogt

6

0 references

Derralynn A Hughes

Derralynn A Hughes

8

0 references

Alberto Ortiz

Alberto Ortiz

3

0 references

Einar Svarstad

2

Einar Svarstad

1 reference

31 August 2017

4

Camilla Tøndel

1 reference

Marius A van den Bergh Weerman

31 August 2017

13

Marius A van den Bergh Weerman

1 reference

31 August 2017

Linda van der Tol

1

1 reference

31 August 2017

Stephen Waldek

7

1 reference

31 August 2017

Wim Terryn

10

1 reference

31 August 2017

Carla E Hollak

11

1 reference

31 August 2017

Christoph Wanner

14

1 reference

31 August 2017

Michael L West

15

1 reference

31 August 2017

Marieke Biegstraaten

16

1 reference

31 August 2017

Gabor E Linthorst

17

1 reference

31 August 2017

20 August 2014

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Molecular Genetics and Metabolism

31 August 2017

1 reference

31 August 2017

114

1 reference

31 August 2017

242-247

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31 August 2017

2

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Prevalence of lysosomal storage disorders

31 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

The frequency of lysosomal storage diseases in The Netherlands.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Fabry or not Fabry--a question of ascertainment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Content validity of the Extended ICF Core Set for stroke: an international Delphi survey of physical therapists

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Iatrogenic phospholipidosis mimicking Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

A clinical view of simple and complex renal cysts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Renal cysts: curios and caveats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Cystic and inherited kidney diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Outcomes of percutaneous kidney biopsy, including those of solitary native kidneys

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Safety and complications of percutaneous kidney biopsies in 715 children and 8573 adults in Norway 1988-2010

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Increased glycosphingolipid excretion associated with proteinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Gene Mutations Versus Clinically Relevant Phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.08.007

10.1016/J.YMGME.2014.08.007

7 January 2021

Identifiers

DOI

1 reference

31 August 2017

1 reference