Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.

Détails

ID Serval
serval:BIB_5694B401A0AD
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.
Périodique
American Journal of Medical Genetics
Auteur(s)
Steinmann B., Superti-Furga A., Joller-Jemelka H.I., Cetta G., Byers P.H.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Statut éditorial
Publié
Date de publication
1989
Volume
34
Numéro
1
Pages
68-71
Langue
anglais
Résumé
Serum levels of procollagen type III aminopropeptide (P-III-NP), a peptide released during conversion of type III procollagen to collagen, were abnormally low in six of 10 patients with Ehlers-Danlos syndrome (EDS) type IV (arterial-ecchymotic type) and low-normal in 4. The serum P-III-NP levels correlated with the amount of type III procollagen secreted by the patients' cultured fibroblasts. Serum P-III-NP determination is a simple test that identifies a major subgroup of patients with this life-threatening, dominantly inherited connective tissue disorder and may be especially helpful in making the diagnosis in children.
Mots-clé
Adolescent, Adult, Cells, Cultured, Child, Ehlers-Danlos Syndrome/blood, Ehlers-Danlos Syndrome/classification, Female, Fibroblasts/secretion, Humans, Male, Middle Aged, Peptide Fragments/blood, Peptide Fragments/secretion, Procollagen/blood, Procollagen/secretion
Pubmed
Web of science
Création de la notice
14/03/2011 16:14
Dernière modification de la notice
20/08/2019 14:10
Données d'usage