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Hirai, Maiko; Yagasaki, Hiroshi; Kanezawa, Koji; Ueno, Masaru; Shimozawa, Katsuyoshi; Imai, Kohsuke; Morio, Tomohiro; Kato, Motohiro; Gocho, Yoshihiro; Narumi, Satoshi; Ebihara, Yasuhiro; Morioka, Ichiro
Journal of pediatric hematology/oncology, 03/2023, Letnik: 45, Številka: 2Journal Article
Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, who presented with anemia and thrombocytopenia (patient 1), and neutropenia and nonsymptomatic white-matter-encephalopathy (patient 2). Both patients received cord blood transplantation and experienced critical post-cord blood transplantation adverse events; patients 1 and 2 developed fulminant engraftment syndrome and life-threatening graft-versus-host disease, respectively. Of note, selective loss of chromosome 7 in bone marrow-derived CD34 + cells was inferred.
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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 |
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| Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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