scholarly journals Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism

2009 ◽  
Vol 106 (35) ◽  
pp. 14820-14824 ◽  
Author(s):  
S.-Y. Yang ◽  
X.-Y. He ◽  
S. E. Olpin ◽  
V. R. Sutton ◽  
J. McMenamin ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Isoleucine Metabolism

Mental Retardation and Isoleucine Metabolism

2015 ◽  
pp. 157-169 ◽  
Author(s):  
Song-Yu Yang ◽  
Xue-Ying He ◽  
Carl Dobkin ◽  
Charles Isaacs ◽  
W. Ted Brown
Keyword(s):  
Mental Retardation ◽  
Isoleucine Metabolism

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

Video-EEG in the diagnosis of paroxysmal events in children with mental retardation and in children with normal intelligence

2001 ◽  
Vol 43 (11) ◽  
pp. 731 ◽  
Author(s):  
Shanti Thirumalai ◽  
Bassel Abou-Khalil ◽  
Toufic Fakhoury ◽  
Gautham Suresh
Keyword(s):  
Mental Retardation ◽  
Normal Intelligence ◽  
Video Eeg
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