L’ipogammaglobulinemia che aiuta a spiegare una anemia microcitica di difficile interpretazione

Autor:	Maria Antonietta Catania, Antonino Trizzin, Clara Mosa, Angela Trizzino, Irene Regina, Simona Ferrari, Paolo D'Angelo
Rok vydání:	2022
Předmět:	Geography Planning and Development Management Monitoring Policy and Law
Zdroj:	Medico e Bambino Pagine elettroniche. 25:152-152
ISSN:	2704-8268
DOI:	10.53126/mebxxvs152
Popis:	The case of a 3-month-year old child presenting with microcytic anaemia is described. He subsequently developed viral encephalitis. The presence of hypogammaglobulinemia and of a mutation in TRNT1 gene at the genome analysis (NSC) led to the diagnosis of SFID syndrome (sideroblastic anaemia, periodic fever, hypogammaglobulinemia, mental disability).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::f099b90ac3ad8333b9406f23393d4525 https://doi.org/10.53126/mebxxvs152 Zobrazit plný text záznamu