scholarly journals Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder

2004 ◽  
Vol 88 (2) ◽  
pp. 191-192 ◽  
Author(s):  
C J Lyons
Keyword(s):  
Peroxisomal Disorder ◽  
Retinal Pigmentation

Peroxisomal Disorders

2017 ◽  
Author(s):  
Gerald V. Raymond ◽  
Mohamed Y. Jefri ◽  
Kristin W. Baranano ◽  
Ali Fatemi
Keyword(s):  
Peroxisomal Disorder ◽  
Peroxisomal Disorders ◽  
Peroxisomal Enzyme ◽  
Second Category

Disorders of the peroxisome are divided into two major categories. In the first, the organelle fails to develop normally, leading to disruption of multiple peroxisomal enzymes. The second category consists of those disorders in which the peroxisome structure is normal but functioning of a single peroxisomal enzyme or protein is defective. While there is an expanding list of disorders in both categories, this chapter focuses on X-linked adrenoleukodystrophy, the most common peroxisomal disorder, and on peroxisomal assembly/biogenesis disorders.

scholarly journals A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

2014 ◽  
Vol 95 (5) ◽  
pp. 602-610 ◽  
Author(s):  
Rebecca Buchert ◽  
Hasan Tawamie ◽  
Christopher Smith ◽  
Steffen Uebe ◽  
A. Micheil Innes ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Fatty Acyl ◽  
Peroxisomal Disorder ◽  
Severe Intellectual Disability ◽  
Coa Reductase

Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block

1960 ◽  
Vol 29 (5) ◽  
pp. 888-893 ◽  
Author(s):  
B.V. Jager ◽  
Herbert L. Fred ◽  
Ronald B. Butler ◽  
William H. Carnes
Keyword(s):  
Heart Block ◽  
Retinal Pigmentation
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