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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Scientific paper - Case study
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

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Lamhonwah, A. M., 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

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, no. 4, 2018, pp. 585-591. https://doi.org/10.1002/ccr3.1316

Lamhonwah, Anne Marie, Ivo Barić, Jessica Lamhonwah, Marina Grubić and Ingrid Tein. "Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)." Clinical Case Reports 6, no. 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), pp. 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]. 2018 February 09 [cited 2024 November 30];6(4):585-591. doi: 10.1002/ccr3.1316

A. M. Lamhonwah, I. Barić, J. Lamhonwah, M. Grubić and I. Tein, "Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)", Clinical Case Reports, vol. 6, no. 4, pp. 585-591, February 2018. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:854412. [Accessed: 30 November 2024]

Metadata
Title (english)Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)
AuthorAnne-Marie Lamhonwah
AuthorIvo Barić
AuthorJessica Lamhonwah
AuthorMarina Grubić
AuthorIngrid Tein
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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).
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleClinical Case Reports
Numberingvol. 6, no. 4, pp. 585-591
p-ISSN2050-0904
DOIhttps://doi.org/10.1002/ccr3.1316
URN:NBNurn:nbn:hr:105:854412
Publication2018-02-09
Document URLhttps://doi.org/10.1002/ccr3.1316
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 10:11:57