Výsledky vyhledávání - "Mahdis Ekrami"

Akademický článek

Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome

Autor: Fatemeh Norouzi Rostami, Hossein Sadeghi, Farzad Hashemi-Gorji, Sahand Tehrani Fateh, Reza Mirfakhraie, Parvaneh Karimzadeh, Milad Davarpanah, Sanaz Jamshidi, Rasoul Madannejad, Parinaz Moghimi, Mahdis Ekrami, Mohammad Miryounesi, Mohammad-Reza Ghasemi

Publikováno v: Heliyon, Vol 10, Iss 6, Pp e27434- (2024)

Background and aims: The occurrence of thiamine metabolism dysfunction syndrome (THMD), a rare autosomal recessive condition, may be linked to various mutations found in the TPK1 and SLC19A3 genes. The disease chiefly manifests through ataxia, muscle

Externí odkaz: https://doaj.org/article/1355e9614303414794d1ae8b428c161e

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Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Autor: Mahdis, Ekrami, Maryam, Torabi, Soudeh, Ghafouri-Fard, Javad, Mowla, Bahram, Mohammad Soltani, Feyzollah, Hashemi-Gorji, Zahra, Mohebbi, Mohammad, Miryounesi

Publikováno v: Iranian Biomedical Journal

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::008d7e6e2625165fbb3691185ee3f642
https://pubmed.ncbi.nlm.nih.gov/28734274

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