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Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

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Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

Auteurs : A. Poulos [Australie] ; C. Van Crugten [Australie] ; P. Sharp [Australie] ; W. F. Carey [Australie] ; E. Robertson [Australie] ; D. M. O. Becroft [Nouvelle-Zélande] ; J. M. Saudubray [France] ; B. T. Poll-The [France] ; E. Christensen [Danemark] ; N. Brandt [Danemark]

Source :

European Journal of Pediatrics [ 0340-6199 ] ; 1986-12-01.

RBID : ISTEX:78A665E3FC76B3FE2B94E6E0EECF41F5022E665F

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Wicri :
- topic : Acide.

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Abstract

Abstract: Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.

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https://api.istex.fr/document/78A665E3FC76B3FE2B94E6E0EECF41F5022E665F/fulltext/pdf

DOI: 10.1007/BF02429053

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<author><name sortKey="Van Crugten, C" sort="Van Crugten, C" uniqKey="Van Crugten C" first="C." last="Van Crugten">C. Van Crugten</name>
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<author><name sortKey="Sharp, P" sort="Sharp, P" uniqKey="Sharp P" first="P." last="Sharp">P. Sharp</name>
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<author><name sortKey="Carey, W F" sort="Carey, W F" uniqKey="Carey W" first="W. F." last="Carey">W. F. Carey</name>
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<author><name sortKey="Robertson, E" sort="Robertson, E" uniqKey="Robertson E" first="E." last="Robertson">E. Robertson</name>
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<author><name sortKey="Becroft, D M O" sort="Becroft, D M O" uniqKey="Becroft D" first="D. M. O." last="Becroft">D. M. O. Becroft</name>
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<term>Basal medium</term>
<term>Caucasian woman</term>
<term>Chorionic</term>
<term>Chorionic villous cells</term>
<term>Classical form</term>
<term>Classical zellweger syndrome</term>
<term>Clin genet</term>
<term>Control range</term>
<term>Cultured amniocytes</term>
<term>Cultured chorionic villous cells</term>
<term>Cultured skin fibroblasts</term>
<term>Fatty acid ratios</term>
<term>Fetal calf serum</term>
<term>Fibroblast</term>
<term>First child</term>
<term>Fourth pregnancy</term>
<term>Hexacosanoic acid</term>
<term>Infantile</term>
<term>Infantile disease</term>
<term>Infantile refsum disease</term>
<term>Long chain</term>
<term>Oxidase</term>
<term>Phytanic</term>
<term>Phytanic acid</term>
<term>Phytanic acid oxidase</term>
<term>Phytanic acid oxidation</term>
<term>Phytanic acid storage disease</term>
<term>Plasma phytanate</term>
<term>Poulos</term>
<term>Prenatal</term>
<term>Prenatal detection</term>
<term>Prenatal diagnosis</term>
<term>Refsum</term>
<term>Refsum disease</term>
<term>Respiratory distress syndrome</term>
<term>Retinitis pigmentosa</term>
<term>Second pregnancy</term>
<term>Skin fibroblast phytanic acid oxidase activity</term>
<term>Skin fibroblasts</term>
<term>Syndrome</term>
<term>Villous</term>
<term>Vlcfa</term>
<term>Vlcfa oxidation</term>
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<term>Infantile</term>
<term>Infantile disease</term>
<term>Infantile refsum disease</term>
<term>Long chain</term>
<term>Oxidase</term>
<term>Phytanic</term>
<term>Phytanic acid</term>
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<term>Prenatal detection</term>
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<front><div type="abstract" xml:lang="en">Abstract: Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.</div>
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Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

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Abstract

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