(Q51771494)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206462%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels (English)

1 reference

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23 December 2019

8

1 reference

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23 December 2019

author name string

A C Vedder

1

1 reference

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23 December 2019

G E Linthorst

2

1 reference

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23 December 2019

M J van Breemen

3

1 reference

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23 December 2019

J E M Groener

4

1 reference

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23 December 2019

F J Bemelman

5

1 reference

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23 December 2019

A Strijland

6

1 reference

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23 December 2019

M M A M Mannens

7

1 reference

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23 December 2019

C E M Hollak

9

1 reference

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23 December 2019

publication date

5 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206462%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

23 December 2019

published in

1 reference

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23 December 2019

volume

30

1 reference

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23 December 2019

issue

1

1 reference

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23 December 2019

page(s)

68-78

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0484-8

23 December 2019

exact match

0 references

cites work

Rapid method of preparation of lysoglycosphingolipids and their confirmation by delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0484-8

Precision of glomerular filtration rate determinations for long-term slope calculations is improved by simultaneous infusion of 125I-iothalamate and 131I-hippuran

21 January 2018

1 reference

12 December 2020

Albuminuria and risk of cardiovascular events, death, and heart failure in diabetic and nondiabetic individuals.

1 reference

12 December 2020

Left ventricular hypertrophy is associated with asymptomatic cerebral damage in hypertensive patients.

1 reference

12 December 2020

K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Manifestations of Fabry disease in placental tissue

1 reference

12 December 2020

Fabry's Disease: Alpha-Galactosidase Deficiency

1 reference

12 December 2020

Echocardiographic criteria for left ventricular hypertrophy: the Framingham Heart Study

1 reference

12 December 2020

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

12 December 2020

GENETIC ASPECTS OF THE THESAURISMOSIS LIPOIDICA HEREDITARIA RUITER-POMPEN-WYERS (ANGIOKERATOMA CORPORIS DIFFUSUM FABRY)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

1 reference

12 December 2020

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

1 reference

12 December 2020

Quantitation of free sphingosine in liver by high-performance liquid chromatography

1 reference

12 December 2020

Natural history of Fabry disease in females in the Fabry Outcome Survey.

1 reference

12 December 2020

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Left ventricular mass and risk of stroke in an elderly cohort. The Framingham Heart Study

1 reference

12 December 2020

The kidney, a cardiovascular risk marker, and a new target for therapy

1 reference

12 December 2020

Clinical presentation in female patients with Fabry disease

1 reference

12 December 2020

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

1 reference

12 December 2020

Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease

1 reference

12 December 2020

A simple method for the isolation and purification of total lipides from animal tissues

1 reference

12 December 2020

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

1 reference

12 December 2020

Angiokeratomas, Fabry disease and enzyme replacement therapy: still a challenge

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

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

1 reference

12 December 2020