Articles with "prolidase deficiency" as a keyword



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Obstinate leg ulceration secondary to prolidase deficiency, treated with 5% topical proline

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Published in 2022 at "Clinical and Experimental Dermatology"

DOI: 10.1111/ced.15085

Abstract: Prolidase deficiency is a rare cause of chronic ulceration with less than 100 reported cases in the literature. This article highlights to clinicians the features of this uncommon genodermatosis, the challenge of diagnosis, and treatment… read more here.

Keywords: prolidase deficiency; leg ulceration; obstinate leg; prolidase ... See more keywords
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A rare cause of cutaneous ulceration: Prolidase deficiency

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Published in 2019 at "International Wound Journal"

DOI: 10.1111/iwj.13138

Abstract: Dear Editors, Prolidase deficiency (PD) is a rare hereditary disease characterised by skin lesions including ulcerations, frequent infections, characteristic facies, mental retardation, and splenomegaly. Diagnosis of prolidase activity is made by sequence analysis of the… read more here.

Keywords: pepd gene; prolidase deficiency; prolidase; ulceration ... See more keywords
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Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis

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Published in 2019 at "ERJ Open Research"

DOI: 10.1183/23120541.00205-2018

Abstract: Diffuse alveolar haemorrhage (DAH) is rare in the paediatric population and the biological mechanisms remain poorly understood [1]. We retrospectively studied 12 children at our centre, identified from our pathology database, with idiopathic DAH between… read more here.

Keywords: whole exome; exome sequencing; diagnosed whole; prolidase deficiency ... See more keywords