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Pregled bibliografske jedinice broj: 1260530

Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)

Lamhonwah, Anne-Marie; Barić, Ivo; Lamhonwah, Jessica; Grubić, Marina; Tein, Ingrid
Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449) // Clinical Case Reports, 6 (2018), 4; 585-591 doi:10.1002/ccr3.1316 (međunarodna recenzija, prikaz, znanstveni)

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Naslov
Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)

Autori
Lamhonwah, Anne-Marie ; Barić, Ivo ; Lamhonwah, Jessica ; Grubić, Marina ; Tein, Ingrid

Izvornik
Clinical Case Reports (2050-0904) 6 (2018), 4; 585-591

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, znanstveni

Ključne riječi
Attention deficit/hyperactivity disorder ; OCTN2 deficiency ; cardiomyopathy ; carnitine‐responsive ; myopathy

Sažetak
This boy presented with ADHD at 3 years and at 8 years was hyperactive with no documented hypoglycemia and had myopathy, cardiomyopathy, and very low serum carnitine. L-carnitine improved his exercise intolerance, cardiomyopathy, and behavior. Analysis of SLC22A5 revealed a premature stop codon (p.R282*) and a novel in-frame deletion (p.T440-Y449).

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Ivo Barić (autor)

Avatar Url Marina Grubić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Lamhonwah, Anne-Marie; Barić, Ivo; Lamhonwah, Jessica; Grubić, Marina; Tein, Ingrid
Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449) // Clinical Case Reports, 6 (2018), 4; 585-591 doi:10.1002/ccr3.1316 (međunarodna recenzija, prikaz, znanstveni)
Lamhonwah, A., Barić, I., Lamhonwah, J., Grubić, M. & Tein, I. (2018) Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449). Clinical Case Reports, 6 (4), 585-591 doi:10.1002/ccr3.1316.
@article{article, author = {Lamhonwah, Anne-Marie and Bari\'{c}, Ivo and Lamhonwah, Jessica and Grubi\'{c}, Marina and Tein, Ingrid}, year = {2018}, pages = {585-591}, DOI = {10.1002/ccr3.1316}, keywords = {Attention deficit/hyperactivity disorder, OCTN2 deficiency, cardiomyopathy, carnitine‐responsive, myopathy}, journal = {Clinical Case Reports}, doi = {10.1002/ccr3.1316}, volume = {6}, number = {4}, issn = {2050-0904}, title = {Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)}, keyword = {Attention deficit/hyperactivity disorder, OCTN2 deficiency, cardiomyopathy, carnitine‐responsive, myopathy} }
@article{article, author = {Lamhonwah, Anne-Marie and Bari\'{c}, Ivo and Lamhonwah, Jessica and Grubi\'{c}, Marina and Tein, Ingrid}, year = {2018}, pages = {585-591}, DOI = {10.1002/ccr3.1316}, keywords = {Attention deficit/hyperactivity disorder, OCTN2 deficiency, cardiomyopathy, carnitine‐responsive, myopathy}, journal = {Clinical Case Reports}, doi = {10.1002/ccr3.1316}, volume = {6}, number = {4}, issn = {2050-0904}, title = {Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)}, keyword = {Attention deficit/hyperactivity disorder, OCTN2 deficiency, cardiomyopathy, carnitine‐responsive, myopathy} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Emerging Sources Citation Index (ESCI)
  • Scopus

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