Results 81 to 90 of about 458 (127)

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population. [PDF]

Mol Diagn Ther
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B.   +14 more
europepmc   +1 more source

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature. [PDF]

Clin Dysmorphol
Mascarenhas S, Yeole M, Rao LP, do Rosario MC, Majethia P, Nair KV, Sharma S, Barala PK, Puri RD, Pal S, Siddiqui S, Shukla A.   +11 more
europepmc   +1 more source

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

J Clin Endocrinol Metab
Myers R, Yildiz M, Nuri Ozbek M, Manzoor J, Ibrahim M, Yajnik C, Atar M, Şiklar Z, Acar S, Globa E, Magdy Omar O, Demirbilek H, Hassan S, Demir K, Hanif M, Guran T, Hatipoglu N, Koçyiğit C, Colclough K, Houghton J, Hattersley A, Van Heugten R, Patel K, Monogenic Diabetes Consortium.   +23 more
europepmc   +1 more source

Copper Deficiency Presenting With Bicytopenia During Long-Term Parenteral Nutrition for Short Bowel Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Tachikawa M, Keino D, Kimizuka Y, Goto H, Hatabu N, Usui H, Kitagawa N, Yanagimachi M.   +7 more
europepmc   +1 more source

Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood-Brain Barrier. [PDF]

Clin Pharmacol Ther
Yee SW, Wang J, Giacomini KM.
europepmc   +1 more source

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Thiamine-Responsive Megaloblastic Anemia Syndrome

International Journal of Hematology, 2010
Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families.
Mehmet Keskin, Hatice Uygun, Ali Bay
exaly   +5 more sources