Roger Syndrome Case Report

Autor:	Muhammad Imran Khan, Hina Ayesha, Ali Asghar Taseer
Rok vydání:	2020
Předmět:	Cultural Studies medicine.medical_specialty business.industry Thiamine transport Religious studies food and beverages medicine.disease Endocrinology Internal medicine Diabetes mellitus Mutation (genetic algorithm) medicine Thiamine business Megaloblastic anemia human activities Gene
Zdroj:	Annals of Punjab Medical College. 14
ISSN:	2077-9151 2077-9143
Popis:	Roger syndrome (Thiamin Responsive Megaloblastic Anemia Syndrome), is characterized by megaloblastic anemia, deafness and diabetes mellitus. It is an autosomal recessive disorder due to mutation in SLC 19A2 gene that leads to defective thiamine transport protein. So, thiamine is not absorbed and effectively utilized by body from diet.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4bedf54039ddec321f72c6036b467558 https://doi.org/10.29054/apmc/2020.716 Zobrazit plný text záznamu