scholarly journals Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review

2016 ◽  
Vol 6 (3) ◽  
Author(s):  
Krzysztof SzczaA‚uba ◽  
Ilona Jaszczuk
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Angelman Syndrome ◽  
Intragenic Deletion

De novo intragenic deletion of theautism susceptibility candidate 2(AUTS2) gene in a patient with developmental delay: A case report and literature review

2013 ◽  
Vol 161 (6) ◽  
pp. 1508-1512 ◽  
Author(s):  
Alexandra Jolley ◽  
Mark Corbett ◽  
Lesley McGregor ◽  
Wendy Waters ◽  
Susan Brown ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
De Novo ◽  
Intragenic Deletion

Valproate-induced hyperammonemia: A case report and literature review

2009 ◽  
Author(s):  
C. L. Khoo ◽  
L. Regina ◽  
S. R. K. Naik ◽  
S. Kang
Keyword(s):  
Case Report ◽  
Literature Review

Pre- and Peripartal Management of a Woman with McArdle Disease: A Case Report and Literature Review

2017 ◽  
Author(s):  
T Stopp ◽  
M Feichtinger ◽  
W Eppel ◽  
T Stulnig ◽  
P Husslein ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Mcardle Disease

Adrenocortical Scintigraphy with 131I-6-Beta-Iodomethyl-NorchoIesterol (NP 59) in Bilateral Adrenocortical Carcinoma

1998 ◽  
Vol 37 (04) ◽  
pp. 141-145
Author(s):  
F. J. C. Pallarés ◽  
A. R. Bartual ◽  
Susana Tenes Rodrigo ◽  
F. J. Ampudia-Blasco ◽  
C. R. de Ávila y Ávalos ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Adrenocortical Carcinoma ◽  
Rapid Progression ◽  
Histological Findings ◽  
Mr Images ◽  
Imaging Procedure ◽  
Adrenocortical Scintigraphy

SummaryA case of a 49-year-old man suffering from bilateral adrenocortical carcinoma with local and secondary rapid progression is reported. The results of adrenocortical scintigraphy (NP 59) and histological findings allowed the diagnosis. This case report and a literature review showed the importance of using adrenocortical scintigraphy as a complementary imaging procedure of CT or MR images.

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