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Pregled bibliografske jedinice broj: 1197027

Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report


Vukšić, Iva; Dumić Kubat, Katja; Ćaleta, Tomislav; Matić, Toni; Cigrovski, Nevenka; Kelečić, Jadranka; Pasini, Miram; Luetić, Tomislav; Vuković, Jurica; Sindičić Dessardo, Nada; Grizelj, Ruža
Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report // Archives of disease in childhood, 106 (2021), Suppl 2
Zagreb, Hrvatska, 2021. str. A51-A52 doi:10.1136/archdischild-2021-europaediatrics.122 (poster, međunarodna recenzija, sažetak, znanstveni)


CROSBI ID: 1197027 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report

Autori
Vukšić, Iva ; Dumić Kubat, Katja ; Ćaleta, Tomislav ; Matić, Toni ; Cigrovski, Nevenka ; Kelečić, Jadranka ; Pasini, Miram ; Luetić, Tomislav ; Vuković, Jurica ; Sindičić Dessardo, Nada ; Grizelj, Ruža

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Archives of disease in childhood, 106 (2021), Suppl 2 / - , 2021, A51-A52

Skup
10th Europaediatrics congress

Mjesto i datum
Zagreb, Hrvatska, 07.10.2021. - 09.10.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
multiple intestinal atresia ; combined immunodeficiendy ; TTC7A mutation

Sažetak
Multiple intestinal atresia (MIA) is a congenital malformation disorder in which atresia occurs at multiple levels throughout the gastrointestinal tract, most commonly small bowel. Frequently it presents as an isolated anomaly, but also as a part of a complex inherited disorder caused by homozygous or compound heterozygous mutation in tetratricopeptide repeat domain 7A (TTC7A) gene. These patients usually have associated mild or severe combined immunodeficiency. Herein we report an infant with MIA and associated combined immunodeficiency (CID).

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Vukšić, Iva; Dumić Kubat, Katja; Ćaleta, Tomislav; Matić, Toni; Cigrovski, Nevenka; Kelečić, Jadranka; Pasini, Miram; Luetić, Tomislav; Vuković, Jurica; Sindičić Dessardo, Nada; Grizelj, Ruža
Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report // Archives of disease in childhood, 106 (2021), Suppl 2
Zagreb, Hrvatska, 2021. str. A51-A52 doi:10.1136/archdischild-2021-europaediatrics.122 (poster, međunarodna recenzija, sažetak, znanstveni)
Vukšić, I., Dumić Kubat, K., Ćaleta, T., Matić, T., Cigrovski, N., Kelečić, J., Pasini, M., Luetić, T., Vuković, J., Sindičić Dessardo, N. & Grizelj, R. (2021) Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report. U: Archives of disease in childhood, 106 (2021), Suppl 2 doi:10.1136/archdischild-2021-europaediatrics.122.
@article{article, author = {Vuk\v{s}i\'{c}, Iva and Dumi\'{c} Kubat, Katja and \'{C}aleta, Tomislav and Mati\'{c}, Toni and Cigrovski, Nevenka and Kele\v{c}i\'{c}, Jadranka and Pasini, Miram and Lueti\'{c}, Tomislav and Vukovi\'{c}, Jurica and Sindi\v{c}i\'{c} Dessardo, Nada and Grizelj, Ru\v{z}a}, year = {2021}, pages = {A51-A52}, DOI = {10.1136/archdischild-2021-europaediatrics.122}, keywords = {multiple intestinal atresia, combined immunodeficiendy, TTC7A mutation}, doi = {10.1136/archdischild-2021-europaediatrics.122}, title = {Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report}, keyword = {multiple intestinal atresia, combined immunodeficiendy, TTC7A mutation}, publisherplace = {Zagreb, Hrvatska} }
@article{article, author = {Vuk\v{s}i\'{c}, Iva and Dumi\'{c} Kubat, Katja and \'{C}aleta, Tomislav and Mati\'{c}, Toni and Cigrovski, Nevenka and Kele\v{c}i\'{c}, Jadranka and Pasini, Miram and Lueti\'{c}, Tomislav and Vukovi\'{c}, Jurica and Sindi\v{c}i\'{c} Dessardo, Nada and Grizelj, Ru\v{z}a}, year = {2021}, pages = {A51-A52}, DOI = {10.1136/archdischild-2021-europaediatrics.122}, keywords = {multiple intestinal atresia, combined immunodeficiendy, TTC7A mutation}, doi = {10.1136/archdischild-2021-europaediatrics.122}, title = {Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report}, keyword = {multiple intestinal atresia, combined immunodeficiendy, TTC7A mutation}, publisherplace = {Zagreb, Hrvatska} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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