Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test

R. J. Wanders; G. van Weringh; G. Schrakamp; J. M. Tager; H. van den Bosch; R. B. Schutgens

doi:10.1016/0009-8981(85)90083-X

Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test

R. J. Wanders
, G. van Weringh
, G. Schrakamp
, J. M. Tager
, H. van den Bosch
, R. B. Schutgens

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Activity of acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound peroxisomal enzyme in mammalian liver cells catalyzing the first step in the biosynthesis of etherphospholipids, is detectable in thrombocytes isolated from blood of human controls. However, in thrombocytes from patients affected by the cerebro-hepato-renal (Zellweger) syndrome, the activity of this enzyme is severely reduced, permitting rapid postnatal biochemical detection of this severe inborn disease, by measuring the enzyme activity in patients' thrombocytes

Original language	English
Pages (from-to)	217-221
Journal	Clinica chimica acta; international journal of clinical chemistry
Volume	151
Issue number	3
DOIs	https://doi.org/10.1016/0009-8981(85)90083-X
Publication status	Published - 1985

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10.1016/0009-8981(85)90083-X

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Wanders, R. J., van Weringh, G., Schrakamp, G., Tager, J. M., van den Bosch, H., & Schutgens, R. B. (1985). Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test. Clinica chimica acta; international journal of clinical chemistry, 151(3), 217-221. https://doi.org/10.1016/0009-8981(85)90083-X

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title = "Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test",

abstract = "Activity of acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound peroxisomal enzyme in mammalian liver cells catalyzing the first step in the biosynthesis of etherphospholipids, is detectable in thrombocytes isolated from blood of human controls. However, in thrombocytes from patients affected by the cerebro-hepato-renal (Zellweger) syndrome, the activity of this enzyme is severely reduced, permitting rapid postnatal biochemical detection of this severe inborn disease, by measuring the enzyme activity in patients' thrombocytes",

author = "Wanders, \{R. J.\} and \{van Weringh\}, G. and G. Schrakamp and Tager, \{J. M.\} and \{van den Bosch\}, H. and Schutgens, \{R. B.\}",

year = "1985",

doi = "10.1016/0009-8981(85)90083-X",

language = "English",

volume = "151",

pages = "217--221",

journal = "Clinica chimica acta; international journal of clinical chemistry",

issn = "0009-8981",

publisher = "Elsevier",

number = "3",

}

Wanders, RJ, van Weringh, G, Schrakamp, G, Tager, JM, van den Bosch, H & Schutgens, RB 1985, 'Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test', Clinica chimica acta; international journal of clinical chemistry, vol. 151, no. 3, pp. 217-221. https://doi.org/10.1016/0009-8981(85)90083-X

Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test. / Wanders, R. J.; van Weringh, G.; Schrakamp, G. et al.
In: Clinica chimica acta; international journal of clinical chemistry, Vol. 151, No. 3, 1985, p. 217-221.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test

AU - Wanders, R. J.

AU - van Weringh, G.

AU - Schrakamp, G.

AU - Tager, J. M.

AU - van den Bosch, H.

AU - Schutgens, R. B.

PY - 1985

Y1 - 1985

N2 - Activity of acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound peroxisomal enzyme in mammalian liver cells catalyzing the first step in the biosynthesis of etherphospholipids, is detectable in thrombocytes isolated from blood of human controls. However, in thrombocytes from patients affected by the cerebro-hepato-renal (Zellweger) syndrome, the activity of this enzyme is severely reduced, permitting rapid postnatal biochemical detection of this severe inborn disease, by measuring the enzyme activity in patients' thrombocytes

AB - Activity of acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membrane-bound peroxisomal enzyme in mammalian liver cells catalyzing the first step in the biosynthesis of etherphospholipids, is detectable in thrombocytes isolated from blood of human controls. However, in thrombocytes from patients affected by the cerebro-hepato-renal (Zellweger) syndrome, the activity of this enzyme is severely reduced, permitting rapid postnatal biochemical detection of this severe inborn disease, by measuring the enzyme activity in patients' thrombocytes

U2 - 10.1016/0009-8981(85)90083-X

DO - 10.1016/0009-8981(85)90083-X

M3 - Article

C2 - 4053381

SN - 0009-8981

VL - 151

SP - 217

EP - 221

JO - Clinica chimica acta; international journal of clinical chemistry

JF - Clinica chimica acta; international journal of clinical chemistry

IS - 3

ER -

Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test

Abstract

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