(Q51917869)

17 April 2018

title

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. (English)

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17 April 2018

paroxysmal extreme pain disorder

main subject

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1 reference

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Hershkovitz T

1

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17 April 2018

Hassoun G

2

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17 April 2018

Indelman M

3

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17 April 2018

Shlush LI

4

1 reference

17 April 2018

Bergman R

5

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17 April 2018

Pollack S

6

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17 April 2018

Sprecher E

7

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17 April 2018

publication date

1 May 2006

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17 April 2018

Clinical and Experimental Dermatology

published in

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17 April 2018

volume

31

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17 April 2018

issue

3

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17 April 2018

page(s)

435-440

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17 April 2018

Prolidase deficiency: case reports of two Argentinian brothers

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

Prolidase deficiency with hyperimmunoglobulin E: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

Mild, late-onset prolidase deficiency: another Italian case

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

Genetic linkage of hyper-IgE syndrome to chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

Corticosteroid treatment of prolidase deficiency skin lesions by inhibiting iminodipeptide-primed neutrophil superoxide generation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2006.02112.X

10.1111/J.1365-2230.2006.02112.X

21 January 2018

Identifiers

DOI

1 reference

17 April 2018

1 reference

17 April 2018