E-viri
Recenzirano
-
olety, Santhosh Sathyanarayana; Vellakampadi, Deepesh
International journal of diabetes in developing countries, 12/2016, Letnik: 36, Številka: 4Journal Article
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome presenting with early onset non-autoimmune diabetes mellitus, megaloblastic anaemia and sensorineural deafness. We report a 16-month-old male, a youngest case of genetically confirmed TRMA syndrome in Indian phenotype, born to consanguineous parents. We found a homozygous pathogenic variant in exon 2 of the SLC19A2 gene, c.314G>A (p.Gly105Glu). The anaemia showed a good response to daily thiamine doses and was able to avoid unwanted blood transfusion. There was no benefit with regard to insulin requirement. Early detection of hearing impairment and referral to audiological treatment was possible. The report indicates that TRMA should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms which would have tremendous impact on patient management if identified early.
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.