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The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. / Schutgens, R. B.; Schrakamp, G.; Wanders, R. J. et al.

In: Prenatal diagnosis, Vol. 5, No. 5, 1985, p. 337-344.

Research output: Contribution to journalArticleAcademicpeer-review

Harvard

Schutgens, RB, Schrakamp, G, Wanders, RJ, Heymans, HS, Moser, HW, Moser, AE, Tager, JM, Bosch, HV & Aubourg, P 1985, 'The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens', Prenatal diagnosis, vol. 5, no. 5, pp. 337-344. https://doi.org/10.1002/pd.1970050506

APA

Schutgens, R. B., Schrakamp, G., Wanders, R. J., Heymans, H. S., Moser, H. W., Moser, A. E., Tager, J. M., Bosch, H. V., & Aubourg, P. (1985). The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. Prenatal diagnosis, 5(5), 337-344. https://doi.org/10.1002/pd.1970050506

Vancouver

Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Moser HW, Moser AE et al. The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. Prenatal diagnosis. 1985;5(5):337-344. doi: 10.1002/pd.1970050506

Author

Schutgens, R. B. ; Schrakamp, G. ; Wanders, R. J. et al. / The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. In: Prenatal diagnosis. 1985 ; Vol. 5, No. 5. pp. 337-344.

BibTeX

@article{7f333ea042be4e718844688a18495265,
title = "The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens",
abstract = "Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetone-phosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome",
author = "Schutgens, {R. B.} and G. Schrakamp and Wanders, {R. J.} and Heymans, {H. S.} and Moser, {H. W.} and Moser, {A. E.} and Tager, {J. M.} and Bosch, {H. V.} and P. Aubourg",
year = "1985",
doi = "10.1002/pd.1970050506",
language = "English",
volume = "5",
pages = "337--344",
journal = "Prenatal diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "5",

}

RIS

TY - JOUR

T1 - The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens

AU - Schutgens, R. B.

AU - Schrakamp, G.

AU - Wanders, R. J.

AU - Heymans, H. S.

AU - Moser, H. W.

AU - Moser, A. E.

AU - Tager, J. M.

AU - Bosch, H. V.

AU - Aubourg, P.

PY - 1985

Y1 - 1985

N2 - Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetone-phosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome

AB - Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetone-phosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome

U2 - 10.1002/pd.1970050506

DO - 10.1002/pd.1970050506

M3 - Article

C2 - 4070172

VL - 5

SP - 337

EP - 344

JO - Prenatal diagnosis

JF - Prenatal diagnosis

SN - 0197-3851

IS - 5

ER -

ID: 1242618