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Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449) (CROSBI ID 323015)

Prilog u časopisu | prikaz, osvrt, kritika | međunarodna recenzija

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

Podaci o odgovornosti

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

engleski

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

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).

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

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o izdanju

6 (4)

2018.

585-591

objavljeno

2050-0904

10.1002/ccr3.1316

Povezanost rada

Kliničke medicinske znanosti

Poveznice
Indeksiranost