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Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)

Autor: Zeineb Ben Ameur, Neji Tebib, Henda Kachouri, Sana Ben Messaoud, Yosra Sassi, Amel Ben Chehida, Maherzia Ferchichi, Mohamed Slim Abdelmoula, Rim Ben Abdelaziz, Hatem Azzouz

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 33:901-913

Objectives We investigated the quality of life (QOL) in parents of children with late treated phenylketonuria (PKU) and its associated factors. Methods We conducted a cross sectional study in the reference center of inherited metabolic disease in Tun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c221ec2033cb3da20bde0f9e8b2abd72
https://doi.org/10.1515/jpem-2020-0035

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A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients

Autor: Neziha Kaabachi, Zeineb Ben Ameur, Hajer Mansouri, Sonia Abdelhak, Neji Tebib, Sana Ben Messaoud, Yosra Sassi, Rim Ben Abdelaziz, Hela Boudabous, Hatem Azzouz, Amel Ben Chehida, Kaouthar Hakim, Mohamed Slim Abdelmoula, Nadia Ben Ali

Publikováno v: Journal of Pediatric Endocrinology and Metabolism
Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter, 2018, ⟨10.1515/jpem-2018-0151⟩

Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10ad9a138d60f18cf74e1653b42b1c8
https://pubmed.ncbi.nlm.nih.gov/30110253

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