Results 111 to 120 of about 12,596 (155)
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Peroxisomal disorders: A review

Journal of Inherited Metabolic Disease, 1994
SummaryUntil recently peroxisomal disorders were considered to be extremely rare and the diagnostic procedures available for postanatal and prenatal diagnosis were not widely known. At present, 17 human disorders are linked to peroxisomal dysfunction.
Fournier, B.   +5 more
openaire   +4 more sources

Peroxisomal Disorders

2021
Much has been learned about the group of peroxisomal disorders in recent years. This includes the development of sensitive laboratory methods allowing the measurement of the full panel of peroxisomal metabolites and follow-up enzymatic methods to pinpoint the underlying defect.
Wanders, Ronald J. A., Waterham, Hans R.
openaire   +3 more sources

Peroxisomal Disorders: A Review

Journal of Neuropathology and Experimental Neurology, 1995
The peroxisomal disorders represent a group of inherited diseases in man in which there is an impairment in one or more peroxisomal functions. The disorders known up to now are usually subdivided into three groups depending upon whether there is a more generalized, multiple or single loss of peroxisomal functions. In this paper we will briefly describe
Wanders, R. J.   +2 more
openaire   +3 more sources

Peroxisomes and Peroxisomal Disorders

1989
Peroxisomes are organelles that are present in virtually all human cell types. The diameter varies between 0.15 and 1.5 µm. Morphologically peroxisomes are differentiated from mitochondria by their single membrane, electron-dense homogeneous matrix and the absence of cristae and from lysosomes which often contain vacuoles, lipids, myelin figures, or ...
Jacob Valk, Marjo S. van der Knaap
openaire   +1 more source

Peroxisomes, lipid metabolism, and peroxisomal disorders

Molecular Genetics and Metabolism, 2004
Peroxisomes catalyse a large variety of different cellular functions of which most have to do with lipid metabolism. This paper deals with the role of peroxisomes in three key pathways of lipid metabolism, including: (1) etherphospholipid biosynthesis, (2) fatty acid beta-oxidation, and (3) fatty acid alpha-oxidation.
openaire   +2 more sources

Peroxisomal Disorders

2012
Abstract Peroxisomes are essential organelles for normal cellular function and are responsible for performing over 50 metabolic reactions, most of which consume or generate molecular oxygen. They are highly versatile, with both anabolic and catabolic functions, many of which are induced only under appropriate conditions.
Mark E. Pennesi, Richard G. Weleber
openaire   +2 more sources

Peroxisomal Disorders

2016
Peroxisomal disorders represent a group of disorders in which there is an impairment in one or more peroxisomal functions. Clinically, a dysfunction of peroxisomes results in most cases in neurologic symptoms of varying extent ranging from severe neurologic symptoms in children to late-onset disease in adults.
Bwee Tien Poll-The   +2 more
openaire   +1 more source

Peroxisomal Disorders

Ryoikibetsu shokogun shirizu, 2003
Wanders, R. J. A.   +2 more
openaire   +4 more sources

Peroxisomal Disorders

2006
Poll-The, B. T.   +2 more
openaire   +3 more sources

Peroxisomal Disorders: Overview

Annals of the New York Academy of Sciences, 1996
H W, Moser, A B, Moser
openaire   +2 more sources

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