Propionic acidaemia crisis: a specific DWI finding—case report

Autor: Khairy Abdella

Publikováno v: Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-4 (2023)

Abstract Background Propionic acidaemia is among the rarest metabolic disorders described in the literatures. It has resulted from an inborn error in the catabolism of amino acids with an accumulation of organic acids as a consequence of this error.

Externí odkaz: https://doaj.org/article/c6687206f95b4a2fad4f80a2941fcf52

Transient Insulin Resistance in Propionic Acidaemia

Autor: El-Naggari, Mohamed A., Rady, Marwa, Althihli, Khalid

Publikováno v: Sultan Qaboos University Medical Journal

Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. Hypoglycaemia is a more commonly described finding rather than hyperglycaemia during metabolic decompensation of PPA. There is a high mortality rate in patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::829f0aa3cb2d00b505d899ba37ff7ee6
http://europepmc.org/articles/PMC8631204

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Autor: Tomas Honzik, Diana Ballhausen, Martina Huemer, Kimberly A. Chapman, Matthias R. Baumgartner, Carlo Dionisi-Vici, Stephanie Grunewald, Sarah C. Grünert, Sabine Scholl-Bürgi, Anupam Chakrapani, Daniela Karall, Monique Williams, Jörn Oliver Sass, Patrick Forny, Goknur Haliloglu, Femke Molema, Marjorie Dixon, Galit Tal, Friederike Hörster, Michel Hochuli, Diego Martinelli

Publikováno v: Journal of Inherited Metabolic Disease, 44(3), 566-592. Springer Netherlands
Journal of Inherited Metabolic Disease
Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A; Dionisi-Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver; Scholl-Bürgi, Sabine; Tal, Galit; Williams, Monique; Huemer, Martina; ... (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), pp. 566-592. Wiley 10.1002/jimd.12370
J Inherit MetabDis. 2021;44:566–592

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b100eb452f8373fdf2592b78e83c3d
https://pure.eur.nl/en/publications/92b20fb2-2f66-48af-b853-afabe47afb0f

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

Autor: Maher Almashary, Minnie Jacob, Mohamed S. Rashed, Mohamad Saeedi, Majid Alfadhel, Zuhair Rahbeeni, Saif Al Saif, Fahd El-Badaoui, Hamad Al-Zaidan, Ayman Alsulaiman, Abeer Migdad, Lujane Y. Al-Ahaidib, Moeenaldeen Al-Sayed, Sulaiman Almohameed, Fuad Al Mutairi, Amal A. A. Saadallah, Mohamed Al-Amoudi, Mohammed Al-Owain, Mansour Alwakeel, Osama Y. Al-Dirbashi, Wafaa Eyaid, Ali Alasmari, Ali Al Othaim, Mohammed Alzahrani, Saeed Aljohery, Ali Al-Odaib, Eissa Faqeih, Zuhair N. Al-Hassnan

Publikováno v: Journal of Paediatrics and Child Health. 53:585-591

Aim To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. Methods A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 0

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6916f6707aa7b3088ec9b90d1305ab9f
https://doi.org/10.1111/jpc.13469