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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Autor: José Antonio Arranz, Johannes Häberle, Raquel Dodelson de Kremer, Norberto Guelbert, Fernanda Peralta, Adriana Becerra, Miriam B. Bezard, Laura E. Laróvere, Celia J. Angaroni, Silene M. Silvera-Ruiz

Publikováno v: Scientia
Orphanet Journal of Rare Diseases
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a single refer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2c3c54e61ea7f0e384a166e32453d4
https://doi.org/10.1186/s13023-019-1177-3

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

Autor: Eva Thimm, Jörg Rennecke, Vassili Valayannopoulos, Jens Derbinski, Sebene Mayorandan, Pascale de Lonlay, Anibh M. Das, Vassiliki Konstantopoulou, Skadi Beblo, Caroline Unsinn, Alberto Burlina, Georg F. Hoffmann, Johannes Häberle

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases

Background Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eace6cde9731edd4f260e0eab03c3885
http://europepmc.org/articles/PMC4991093

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Postpartum 'Psychosis' in Mild Argininosuccinate Synthetase Deficiency

Autor: Gregory M. Enns, Haruhide Shinzawa, William E. O'brien, Joan E. Pellegrino, Keiko Kobayashi

Publikováno v: Obstetrics & Gynecology. 105:1244-1246

Urea cycle disorders are relatively rare but well-established causes of postpartum coma and death. Such clinical presentations have been reported previously in ornithine transcarbamylase and carbamyl phosphate synthetase deficiencies.We describe a wo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbd88444d32aa044e0080c3f55d1d012
https://doi.org/10.1097/01.aog.0000157769.90230.24