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Molecular Genetics and Metabolism, 2021
INTRODUCTION Lysosomal storage disorders and peroxisomal disorders are rare diseases caused by the accumulation of substrates of the metabolic pathway within lysosomes and peroxisomes, respectively.
Ritei Uehara, Aya Narita
exaly +2 more sources
INTRODUCTION Lysosomal storage disorders and peroxisomal disorders are rare diseases caused by the accumulation of substrates of the metabolic pathway within lysosomes and peroxisomes, respectively.
Ritei Uehara, Aya Narita
exaly +2 more sources
, 2017 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.
Mohamed Y. Jefri +3 more
exaly +3 more sources
Clinical and Laboratory Diagnosis of Peroxisomal Disorders.
Methods in molecular biology, 2017 The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes.
R. Wanders +4 more
semanticscholar +2 more sources
Handbook of Clinical Neurology, 2013
The peroxisomal disorders represent a group of genetic diseases in man in which there is an impairment in one or more peroxisomal functions. The peroxisomal disorders are subdivided into three subgroups comprising: (1) the peroxisome biogenesis disorders (PBDs); (2) the single peroxisomal (enzyme-) protein deficiencies; and (3) the single peroxisomal ...
P. Aubourg, R. Wanders
semanticscholar +3 more sources
The peroxisomal disorders represent a group of genetic diseases in man in which there is an impairment in one or more peroxisomal functions. The peroxisomal disorders are subdivided into three subgroups comprising: (1) the peroxisome biogenesis disorders (PBDs); (2) the single peroxisomal (enzyme-) protein deficiencies; and (3) the single peroxisomal ...
P. Aubourg, R. Wanders
semanticscholar +3 more sources
Postepy biochemii, 2019 Peroxisomes are multifunctional microorganelles that play a key role in numerous biochemical processes adapting dynamically to the current physiological requirements of the cell. The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal proteins is the pathogenic basis of the ...
N. Shimozawa
semanticscholar +4 more sources
Postnatal diagnosis of peroxisomal disorders: A biochemical approach
Biochimie, 1993 In recent years an increasing number of inherited decreases in man has been identified in which there is an impairment of one or more peroxisomal functions.
P G Barth, R B Schutgens, P G Barth
exaly +2 more sources
The MR spectrum of peroxisomal disorders
Neuroradiology, 1991 In the last decade an increasing number of peroxisomal disorders has been recognized. Almost all peroxisomal disorders affect the central nervous system. Many of them lead to demyelination, some of them lead to migrational disturbances. The MR pattern of
Marjo van der Knaap
exaly +2 more sources
Biochemistry and Cell Biology, 1991
The concept that there are human disease states that are associated with abnormal peroxisomal function is of recent origin. This is due in part to the relatively recent discovery of the organelle itself by de Duve in 1983, and to the earlier belief that it was a vestigial structure in mammals.
H W, Moser, A, Bergin, D, Cornblath
openaire +2 more sources
The concept that there are human disease states that are associated with abnormal peroxisomal function is of recent origin. This is due in part to the relatively recent discovery of the organelle itself by de Duve in 1983, and to the earlier belief that it was a vestigial structure in mammals.
H W, Moser, A, Bergin, D, Cornblath
openaire +2 more sources
Hospital Practice, 1985
It is now recognized that absence of normal peroxisomal function is associated with far-reaching and devastating consequences. A group of diverse genetic disorders in which either defective formation of the peroxisome or deficiency of one or more of its constituent enzymes is the central pathogenetic feature has recently been described. Three principal
H W, Moser, S L, Goldfischer
openaire +2 more sources
It is now recognized that absence of normal peroxisomal function is associated with far-reaching and devastating consequences. A group of diverse genetic disorders in which either defective formation of the peroxisome or deficiency of one or more of its constituent enzymes is the central pathogenetic feature has recently been described. Three principal
H W, Moser, S L, Goldfischer
openaire +2 more sources
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
Clinical Genetics, 2019Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders.
J. Alshenaifi +44 more
semanticscholar +1 more source