prikaz prve stranice dokumenta Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)
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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. https://doi.org/10.1002/ccr3.1316
Lamhonwah, Anne-Marie; Barić, Ivo; Lamhonwah, Jessica; Grubić, Marina; Tein, Ingrid

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

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Lamhonwah, A. M., Barić, I., Lamhonwah, J., Grubić, M. i 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

Lamhonwah, Anne Marie, et al. "Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)." Clinical Case Reports, vol. 6, br. 4, 2018, str. 585-591. https://doi.org/10.1002/ccr3.1316

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

Lamhonwah, A. M., et al. (2018) 'Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)', Clinical Case Reports, 6(4), str. 585-591. doi: 10.1002/ccr3.1316

Lamhonwah AM, Barić I, Lamhonwah J, Grubić M, Tein I. Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449). Clinical Case Reports [Internet]. 09.02.2018. [pristupljeno 01.05.2024.];6(4):585-591. doi: 10.1002/ccr3.1316

A. M. Lamhonwah, I. Barić, J. Lamhonwah, M. Grubić i I. Tein, "Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)", Clinical Case Reports, vol. 6, br. 4, str. 585-591, Veljača 2018. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:854412. [Citirano: 01.05.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:854412
Podaci o radu
Naslov (engleski)Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)
AutorAnne-Marie Lamhonwah
AutorIvo Barić
AutorJessica Lamhonwah
AutorMarina Grubić
AutorIngrid Tein
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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).
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaClinical Case Reports
Brojčani podacivol. 6, br. 4, str. 585-591
p-ISSN2050-0904
DOIhttps://doi.org/10.1002/ccr3.1316
URN:NBNurn:nbn:hr:105:854412
Datum objave publikacije2018-02-09
URL dokumentahttps://doi.org/10.1002/ccr3.1316
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2024-03-28 10:11:57