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Pregled bibliografske jedinice broj: 405780

Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene


Mijaljica, Goran; Čulić, Vida; Betz, Regine; Fumić, Ksenija; Barić, Ivo
Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene // Paediatria Croatica 53 (suppl), Abstract book / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2009. str. 46-46 (poster, domaća recenzija, sažetak, znanstveni)


CROSBI ID: 405780 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene

Autori
Mijaljica, Goran ; Čulić, Vida ; Betz, Regine ; Fumić, Ksenija ; Barić, Ivo

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

Izvornik
Paediatria Croatica 53 (suppl), Abstract book / Barišić, Ingeborg - Zagreb : Denona, 2009, 46-46

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Dubrovnik, Hrvatska; Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
tyrosinemia; tyrosine amino-transferase

Sažetak
Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene

Izvorni jezik
Engleski



POVEZANOST RADA


Projekti:
108-1081870-1885 - Nasljedne metaboličke i ostale monogenske bolesti djece (Barić, Ivo, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Vida Čulić (autor)

Avatar Url Ksenija Fumić (autor)

Avatar Url Ivo Barić (autor)


Citiraj ovu publikaciju:

Mijaljica, Goran; Čulić, Vida; Betz, Regine; Fumić, Ksenija; Barić, Ivo
Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene // Paediatria Croatica 53 (suppl), Abstract book / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2009. str. 46-46 (poster, domaća recenzija, sažetak, znanstveni)
Mijaljica, G., Čulić, V., Betz, R., Fumić, K. & Barić, I. (2009) Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene. U: Barišić, I. (ur.)Paediatria Croatica 53 (suppl), Abstract book.
@article{article, author = {Mijaljica, Goran and \v{C}uli\'{c}, Vida and Betz, Regine and Fumi\'{c}, Ksenija and Bari\'{c}, Ivo}, editor = {Bari\v{s}i\'{c}, I.}, year = {2009}, pages = {46-46}, keywords = {tyrosinemia, tyrosine amino-transferase}, title = {Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene}, keyword = {tyrosinemia, tyrosine amino-transferase}, publisher = {Denona}, publisherplace = {Dubrovnik, Hrvatska; Cavtat, Hrvatska} }
@article{article, author = {Mijaljica, Goran and \v{C}uli\'{c}, Vida and Betz, Regine and Fumi\'{c}, Ksenija and Bari\'{c}, Ivo}, editor = {Bari\v{s}i\'{c}, I.}, year = {2009}, pages = {46-46}, keywords = {tyrosinemia, tyrosine amino-transferase}, title = {Tyrosinemia type II (Richner-Hanhart syndrome): first case in Croatia and an unreported mutation in exon 11 (codon 417) of the TAT gene}, keyword = {tyrosinemia, tyrosine amino-transferase}, publisher = {Denona}, publisherplace = {Dubrovnik, Hrvatska; Cavtat, Hrvatska} }

Časopis indeksira:


  • Scopus





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