scholarly journals Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report

2021 ◽  
Vol 23 ◽  
Author(s):  
Evida Mars-Holt ◽  
Alex Murdoch ◽  
Amanda Frugoli ◽  
Brian Utz ◽  
Lynn Kong
2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Begona Sanchez-Lechuga ◽  
Muhammad Saqlain ◽  
Nicholas Ng ◽  
Kevin Colclough ◽  
Conor Woods ◽  
...  

2019 ◽  
Vol 14 (4) ◽  
pp. 514-517 ◽  
Author(s):  
Seongsu Kang ◽  
Da Mi Kim ◽  
In Ho Lee ◽  
Chang June Song

2013 ◽  
Vol 20 (6) ◽  
pp. 364
Author(s):  
Gwang Seok Yoon ◽  
Won Park ◽  
Ji Hyeon Baek ◽  
Jee-Young Han ◽  
Kyong-Hee Jung ◽  
...  

2019 ◽  
pp. 5-6
Author(s):  
Nitharsha Prakash M ◽  
N Nag Anand

Bartter Syndrome is a rare congenital disease that manifests as hypokalemia, hyponatremia and hypotension. The disease occurs due to defective genes that are responsible for the reabsorption of certain electrolytes in the renal tubules. Hence it results in salt-wasting dyselectrolytemia. By its inheritable nature, the usual presentation of the disease is in the infants and children. But this case report presents an adult with symptoms of Bartter Syndrome which was discovered by chance while the patient was being treated for Acute gastroenteritis. Adult onset of Bartter Syndrome is incredibly rare and has been reported only in few other cases.


2019 ◽  
Author(s):  
NAROTTAM SÓCRATES GARCIA CHUMPITAZ ◽  
MATEUS DE OLIVERIA LOPES ◽  
RODRIGO DOS SANTOS SILVA ◽  
BRUNO LEITÃO DA SILVA

2021 ◽  
Vol 12 (5) ◽  
pp. 741
Author(s):  
Suman Patra ◽  
Tummidi Santosh ◽  
Garima Goel ◽  
Richa Rupla

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