Results 11 to 20 of about 4,693,382 (193)

Modelling Peroxisomal Disorders in Zebrafish [PDF]

Cells
Peroxisomes are ubiquitous, dynamic, oxidative organelles with key functions in cellular lipid metabolism and redox homeostasis. They have been linked to healthy ageing, neurodegeneration, cancer, the combat of pathogens and viruses, and infection and ...
Chenxing S. Jiang, Michael Schrader
doaj   +9 more sources

Peroxisomal Disorders

Pediatric Neurology Briefs, 1990
The total fatty acid and aldehyde composition in the brain, liver, and kidneys of two infants with Zellweger’s syndrome and one with pseudo-Zellweger’s syndrome and the fatty acid patterns expressed as percent values are reported from the Autonomous ...
J Gordon Millichap
doaj   +5 more sources

Peroxisomal disorders in neurology. [PDF]

Journal of the Neurological Sciences, 1988
Although peroxisomes were initially believed to play only a minor role in mammalian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism.
R. J. Wanders, H. S. A. Heymans, R. Schutgens, P. Barth, H. van den Bosch, J. M. Tager   +5 more
semanticscholar   +5 more sources

Peroxisomal disorders: The single peroxisomal enzyme deficiencies [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006
Peroxisomal disorders are a group of inherited diseases in man in which either peroxisome biogenesis or one or more peroxisomal functions are impaired. The peroxisomal disorders identified to date are usually classified in two groups including: (1) the disorders of peroxisome biogenesis, and (2) the single peroxisomal enzyme deficiencies.
Wanders, Ronald J.A., Waterham, Hans R.
openaire   +3 more sources

Peroxisomal Disorders Diagnosis

Pediatric Neurology Briefs, 1998
The clinical manifestations of 27 patients affected with peroxisomal disorders and seen between 1982 and 1997 are described from the Hopital Necker-Enfants Malades, Paris, and other centers.
J Gordon Millichap
doaj   +2 more sources

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., Smeitink, J. A., Dorland, L., Berger, R., Saudubray, J. M., Poll-The, B. T.   +5 more
openaire   +5 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., Schutgens, R. B., Barth, P. G.   +2 more
openaire   +4 more sources

Peroxisomal disorders

Seminars in Neonatology, 2002
Peroxisomes are subcellular organelles catalyzing a number of indispensable functions in cellular metabolism. The importance of peroxisomes is stressed by the existence of an expanding number of genetic diseases in which there is an impairment of one or more peroxisomal functions.
Baumgartner, Matthias R, Saudubray, Jean Marie   +1 more
openaire   +4 more sources

Plasma lipidomics as a diagnostic tool for peroxisomal disorders [PDF]

Journal of Inherited Metabolic Disease, 2017
Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid ...
Katharina Herzog, Mia L. Pras-Raves, S. Ferdinandusse, M. Vervaart, Angela C. M. Luyf, A. V. van Kampen, R. Wanders, H. Waterham, F. Vaz   +8 more
semanticscholar   +3 more sources

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

Clinical Genetics, 2004
The peroxisomal disorders represent a group of genetic diseases in humans in which there is an impairment in one or more peroxisomal functions. The peroxisomal disorders are usually subdivided into two subgroups including (i) the peroxisome biogenesis disorders (PBDs) and (ii) the single peroxisomal (enzyme‐) protein deficiencies.
R J A, Wanders, H R, Waterham
openaire   +3 more sources