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Pregled bibliografske jedinice broj: 728495

Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene

Ramadža, Danijela P; Mayr, JA; Sarnavka, Vladimir: Ćuk, Mario; Paležac, Lidija; Fumić, Ksenija; Bilić, Karmen; Malčić, Ivan; Barišić, Nina, Grubić, Marina; Vuković, Jurica; Žarković, Kamelija et al.
Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene // Journal of inherited metabolic disease
Innsbruck, Austrija, 2014. str. S151-S151 (poster, međunarodna recenzija, sažetak, znanstveni)

CROSBI ID: 728495 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene

Autori
Ramadža, Danijela P ; Mayr, JA ; Sarnavka, Vladimir: Ćuk, Mario ; Paležac, Lidija ; Fumić, Ksenija ; Bilić, Karmen ; Malčić, Ivan ; Barišić, Nina, Grubić, Marina ; Vuković, Jurica ; Žarković, Kamelija ; Ćorić, Marijana ; Sperl, W ; Regelsberger, G ; Barić, Ivo

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

Izvornik
Journal of inherited metabolic disease / - , 2014, S151-S151

Skup
Annual symposium of SSIEM

Mjesto i datum
Innsbruck, Austrija, 02.09.2014. - 05.09.2014

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Danon disease; X-linked disorders; LAMP2 gene

Sažetak
Danon disease is an X-linked dominant disorder caused by deficiency of lysosomal-associated membrane protein 2 due to LAMP2 gene mutations. Main clinical characteristics are myopathy, cardiomyopathy and intellectual disability.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Marijana Ćorić (autor)

Avatar Url Ivan Malčić (autor)

Avatar Url Nina Barišić (autor)

Avatar Url Ivo Barić (autor)

Avatar Url Jurica Vuković (autor)

Avatar Url Ksenija Fumić (autor)

Avatar Url Kamelija Žarković (autor)

Avatar Url Lidija Paležac (autor)

Citiraj ovu publikaciju:

Ramadža, Danijela P; Mayr, JA; Sarnavka, Vladimir: Ćuk, Mario; Paležac, Lidija; Fumić, Ksenija; Bilić, Karmen; Malčić, Ivan; Barišić, Nina, Grubić, Marina; Vuković, Jurica; Žarković, Kamelija et al.
Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene // Journal of inherited metabolic disease
Innsbruck, Austrija, 2014. str. S151-S151 (poster, međunarodna recenzija, sažetak, znanstveni)
Ramadža, D., Mayr, J., Sarnavka, Vladimir: Ćuk, Mario, Paležac, L., Fumić, K., Bilić, K., Malčić, I., Barišić, Nina, Grubić, Marina, Vuković, J. & Žarković, K. (2014) Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene. U: Journal of inherited metabolic disease.
@article{article, author = {Ramad\v{z}a, Danijela P and Mayr, JA and Pale\v{z}ac, Lidija and Fumi\'{c}, Ksenija and Bili\'{c}, Karmen and Mal\v{c}i\'{c}, Ivan and Vukovi\'{c}, Jurica and \v{Z}arkovi\'{c}, Kamelija and \'{C}ori\'{c}, Marijana and Sperl, W and Regelsberger, G and Bari\'{c}, Ivo}, year = {2014}, pages = {S151-S151}, keywords = {Danon disease, X-linked disorders, LAMP2 gene}, title = {Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene}, keyword = {Danon disease, X-linked disorders, LAMP2 gene}, publisherplace = {Innsbruck, Austrija} }
@article{article, author = {Ramad\v{z}a, Danijela P and Mayr, JA and Pale\v{z}ac, Lidija and Fumi\'{c}, Ksenija and Bili\'{c}, Karmen and Mal\v{c}i\'{c}, Ivan and Vukovi\'{c}, Jurica and \v{Z}arkovi\'{c}, Kamelija and \'{C}ori\'{c}, Marijana and Sperl, W and Regelsberger, G and Bari\'{c}, Ivo}, year = {2014}, pages = {S151-S151}, keywords = {Danon disease, X-linked disorders, LAMP2 gene}, title = {Early clinical presentation of Danon disease in a boy with a novel mutation of the LAMP2 gene}, keyword = {Danon disease, X-linked disorders, LAMP2 gene}, publisherplace = {Innsbruck, Austrija} }

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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