scholarly journals Leigh's Disease

2019 ◽  
Author(s):  
Keyword(s):  
Leigh's Disease

scholarly journals Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

2015 ◽  
Vol 115 (4) ◽  
pp. 161-167 ◽  
Author(s):  
Ashlee R. Stiles ◽  
Sacha Ferdinandusse ◽  
Arnaud Besse ◽  
Vivek Appadurai ◽  
Karen B. Leydiker ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Retrospective Analysis ◽  
Leigh's Disease

scholarly journals DETECTION OF LEIGH'S DISEASE IN FIBROBLASTS

1974 ◽  
Vol 8 (4) ◽  
pp. 393-393 ◽  
Author(s):  
Jerome V Murphy ◽  
Warren F Diven ◽  
Linda Craig
Keyword(s):  
Leigh's Disease

Leigh’s Disease

2009 ◽  
pp. 81-101
Author(s):  
David W. McCandless
Keyword(s):  
Leigh's Disease

A case of Leigh's disease with initial manifestation of dystonia

1990 ◽  
Vol 31 (3) ◽  
pp. 274 ◽  
Author(s):  
Chae Woo Chung ◽  
Sung Hee Hwang ◽  
Young Chul Choi ◽  
Young Ho Sohn ◽  
Jin Soo Kim ◽  
...  
Keyword(s):  
Initial Manifestation ◽  
Leigh's Disease

Pathogenic factors underlying the lesions in Leigh's disease

Brain ◽  
1994 ◽  
Vol 117 (6) ◽  
pp. 1357-1376 ◽  
Author(s):  
J. B. Cavanagh ◽  
B. N. Harding
Keyword(s):  
Leigh's Disease ◽  
Pathogenic Factors

Subacute necrotizing encephalomyelopathy (Leigh's disease)

PEDIATRICS ◽  
1977 ◽  
Vol 60 (6) ◽  
pp. 935-937
Author(s):  
David W. McCandless ◽  
William E. Hodgkin
Keyword(s):  
Weight Loss ◽  
Early Diagnosis ◽  
Clinical Features ◽  
Postmortem Examination ◽  
Gradual Reduction ◽  
Leigh's Disease ◽  
Loss Of Appetite

Subacute necrotizing encephalomyelopathy (SNE) was first described in 1951 by Denis Leigh.1 Since then, well over 100 cases have been described, and probably as many as 100 more have been diagnosed (at postmortem examination) and not recorded. With an increased awareness of the clinical features of this disease comes an increase in early diagnosis. Such diagnosis is not easy, however, since there is a broad range of variability in symptoms and time of onset. Characteristically, most patients with SNE develop normally until about 1 year of age. the parents may note a gradual reduction in development. There is usually a loss of appetite with resultant weight loss.

Cytochrome c Oxidase Deficiency in Three Patients with Leigh’s Disease

1988 ◽  
pp. 189-192
Author(s):  
M. Di Rocco ◽  
E. Veneselli ◽  
M. O. Ciccone ◽  
A. Taccone ◽  
M. Stroppiano ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Leigh's Disease ◽  
Cytochrome C Oxidase Deficiency

Leigh’s Disease

2021 ◽  
pp. 2695-2695
Keyword(s):  
Leigh's Disease

An adult presentation of Leigh's disease-like with brainstem involvement

2019 ◽  
Vol 67 (6) ◽  
pp. 1568
Author(s):  
Sachin Sureshbabu ◽  
GauravK Mittal ◽  
Sudhir Peter ◽  
Chindripu Sobhana ◽  
Amit Garg ◽  
...  
Keyword(s):  
Leigh's Disease ◽  
Adult Presentation

scholarly journals Leigh's disease involving multiple organs

1993 ◽  
Vol 8 (3) ◽  
pp. 214 ◽  
Author(s):  
Kyeong Cheon Jung ◽  
Na Hye Myong ◽  
Je G. Chi ◽  
Hee Ran Choi ◽  
Hye Sun Lee ◽  
...  
Keyword(s):  
Leigh's Disease ◽  
Multiple Organs
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