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32 results on '"Heymans, H."'

3. P0089 PP OPTIMAL PROTEIN LOAD IN CHILDREN WITH CYSTIC FIBROSIS

Author

Oudshoorn, J. H., primary, Geukers, V. G., additional, Taminiau, J. A., additional, Van der Ent, C. K., additional, Schilte, P. P., additional, Ruiter, A. F., additional, Endert, E., additional, Ackermans, M. T., additional, Jonkers‐Schuitema, C. F., additional, Heymans, H. S., additional, and Sauerwein, H. P., additional

Published
2004
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17. A sibship with a mild variant of Zellweger syndrome

Author

Barth, P. G., primary, Schutgens, R. B. H., additional, Wanders, R. J. A., additional, Heymans, H. S. A., additional, Moser, A. E., additional, Moser, H. W., additional, Bleeker‐Wagemakers, E. M., additional, Jansonius‐Schultheiss, K., additional, Derix, M., additional, and Nelck, G. F., additional

Published
1986
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21. Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: Implications for postnatal detection of the disease

Author

Wanders, R. J. A., primary, Purvis, Y. R., additional, Heymans, H. S. A., additional, Bakkeren, J. A. J. M., additional, Parmentier, G. G., additional, van Eldere, J., additional, Eyssen, H., additional, van den Bosch, H., additional, Tager, J. M., additional, and Schutgens, R. B. H., additional

Published
1986
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30. The inborn errors of peroxisomal beta-oxidation: a review.

Author

Wanders RJ, van Roermund CW, Schutgens RB, Barth PG, Heymans HS, van den Bosch H, and Tager JM

Subjects
Fatty Acids metabolism, Female, Humans, Metabolism, Inborn Errors classification, Metabolism, Inborn Errors diagnosis, Mitochondria metabolism, Oxidation-Reduction, Pregnancy, Prenatal Diagnosis, Metabolism, Inborn Errors metabolism, Microbodies metabolism
Abstract

In recent years a growing number of inherited diseases in man have been recognized in which there is an impairment in peroxisomal beta-oxidation. In some diseases this is due to the (virtual) absence of peroxisomes leading to a generalized loss of peroxisomal functions including peroxisomal beta-oxidation. In most inborn errors of peroxisomal beta-oxidation, however, peroxisomes are normally present and the impairment in peroxisomal beta-oxidation is due to the single or multiple loss of peroxisomal beta-oxidation enzyme activities. In all these disorders there is accumulation of very-long-chain fatty acids in plasma, which allows biochemical diagnosis of patients affected by an inborn error of peroxisomal beta-oxidation to be done via gas-chromatographic analysis of plasma very-long-chain fatty acids. Subsequent enzymic and immunological investigations are required to identify the precise enzymic defects in these patients. In all inborn errors of peroxisomal beta-oxidation known today there are multiple abnormalities, especially neurological with death usually occurring in the first decade of life. Prenatal diagnosis of these disorders has recently become possible.

Published
1990
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31. Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy).

Author

Kerckaert I, Dingemans KP, Heymans HS, Vamecq J, and Roels F

Subjects
Adipose Tissue, Brown metabolism, Adipose Tissue, Brown pathology, Adult, Birefringence, Child, Child, Preschool, Histocytochemistry, Humans, Infant, Infant, Newborn, Kidney metabolism, Kidney pathology, Liver pathology, Microscopy, Electron, Microscopy, Polarization, Pancreas metabolism, Pancreas pathology, Adrenoleukodystrophy metabolism, Diffuse Cerebral Sclerosis of Schilder metabolism, Liver metabolism, Organelles metabolism, Refsum Disease metabolism, X Chromosome, Zellweger Syndrome metabolism
Abstract

Polarizing material has been reported in the liver of children with infantile Refsum's disease (IRD) and was absent in two patients with the cerebro-hepato-renal syndrome of Zellweger (CHRS). We examined in polarized light 15 liver biopsy and autopsy samples from six other patients with the cerebro-hepato-renal syndrome of Zellweger, two with the rhizomelic form of chondrodysplasia punctata (rCDP) and two with X-linked adrenoleukodystrophy (ALD), all conditions with deficient peroxisomes. Two types of birefringent inclusions were found in CHRS only: the first is transparent in bright field, the second appears as brown granules or rods, similar to lipofuscins. As in IRD large PAS-positive macrophage-like cells contain the transparent type. Electron microscopical investigation of these cells shows trilaminar structures within membrane-bound organelles. The two types were also seen in kidney and brown adipose tissue, the first type in pancreas, the second type in adrenal gland; no such was observed in myocardium or in thyroid gland (CHRS). No birefringent inclusions were present in rCDP and ALD. The nature of the inclusions is still unclear. An accumulation of the transparent polarizing material with increasing age of the patients is most likely.

Published
1988
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32. A sibship with a mild variant of Zellweger syndrome.

Author

Barth PG, Schutgens RB, Wanders RJ, Heymans HS, Moser AE, Moser HW, Bleeker-Wagemakers EM, Jansonius-Schultheiss K, Derix M, and Nelck GF

Subjects
Acyltransferases deficiency, Bile Acids and Salts blood, Brain Diseases metabolism, Brain Diseases pathology, Child, Child, Preschool, Fatty Acids blood, Female, Fibroblasts enzymology, Humans, Kidney Diseases metabolism, Kidney Diseases pathology, Liver pathology, Liver Diseases metabolism, Liver Diseases pathology, Male, Metabolism, Inborn Errors metabolism, Metabolism, Inborn Errors pathology, Microbodies pathology, Phytanic Acid blood, Pipecolic Acids blood, Syndrome, Brain Diseases genetics, Kidney Diseases genetics, Liver Diseases genetics, Metabolism, Inborn Errors genetics
Abstract

A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver biopsy in the younger patient revealed the absence of recognizable peroxisomes. In both patients plasma levels of pipecolic acid, phytanic acid, trihydroxycoprostanoic acid and dihydroxycoprostanoic acid were elevated. The very long chain fatty acid C26:0 and the C26:0/C22:0 fatty acid ratio were elevated in plasma, but less than in classical Zellweger syndrome. In cultured fibroblasts, deficient acyl-CoA:dihydroxyacetone phosphate acyltransferase and increased concentrations of C26:0 as well as C26:1 very long chain fatty acids were found within the ranges previously established for patients with classical Zellweger syndrome. Particle-bound catalase was absent in fibroblasts. Despite the relatively mild clinical expression the biochemical abnormalities found in these patients are the result of a general peroxisomal dysfunction similar to the changes in classical Zellweger syndrome.

Published
1987
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