peroxisomal disorder
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2021 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Hansashree Padmanabha ◽  
Cheshta Arora ◽  
Rita Christopher ◽  
Rohan Mahale ◽  
Maya Bhat ◽  
...  

Author(s):  
Malena Daich Varela ◽  
Priyam Jani ◽  
Wadih M. Zein ◽  
Precilla D'Souza ◽  
Lynne Wolfe ◽  
...  

2019 ◽  
Vol 18 (02) ◽  
pp. 106-109
Author(s):  
Hyoung Won Choi ◽  
Gerald Vincent Raymond ◽  
Weston Miller

AbstractX-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations include increasing deficits in behavior, vision, hearing, coordination, and motor function, as well as seizures. Without treatment, CCALD often results in apparent vegetative state within 1 to 2 years of appearance of initial signs and symptoms. We present the case of a boy with classic inflammatory CCALD who exhibited spontaneous attenuation in disease progression. While extremely rare, spontaneous arrest of disease progression may occur in boys with inflammatory CCALD.


2017 ◽  
Vol 66 (12) ◽  
pp. 944-947
Author(s):  
J. S. Englbrecht ◽  
M. Maas
Keyword(s):  

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