Van gen naar ziekte; de ziekte van Wilson: Koperstapeling door mutaties in ATP7B

J.M. Stapelbroek; J.K. Ploos van Amstel; J. van Hattum; L.H. van den Berg; L.W.J. Klomp; R.H.J. Houwen

Van gen naar ziekte; de ziekte van Wilson: Koperstapeling door mutaties in ATP7B

Translated title of the contribution: From gene to disease; Wilson disease: Copper storage due to mutations in ATP7B

J.M. Stapelbroek, J.K. Ploos van Amstel, J. van Hattum, L.H. van den Berg, L.W.J. Klomp, R.H.J. Houwen

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

1 Citation (Scopus)

Abstract

Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.

Translated title of the contribution	From gene to disease; Wilson disease: Copper storage due to mutations in ATP7B
Original language	Dutch
Pages (from-to)	603-605
Number of pages	3
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	147
Issue number	13
Publication status	Published - 29 Mar 2003

Cite this

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title = "Van gen naar ziekte; de ziekte van Wilson: Koperstapeling door mutaties in ATP7B",

abstract = "Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.",

author = "J.M. Stapelbroek and {Ploos van Amstel}, J.K. and {van Hattum}, J. and {van den Berg}, L.H. and L.W.J. Klomp and R.H.J. Houwen",

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language = "Dutch",

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pages = "603--605",

journal = "Nederlands Tijdschrift voor Geneeskunde",

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T2 - Koperstapeling door mutaties in ATP7B

AU - Stapelbroek, J.M.

AU - Ploos van Amstel, J.K.

AU - van Hattum, J.

AU - van den Berg, L.H.

AU - Klomp, L.W.J.

AU - Houwen, R.H.J.

PY - 2003/3/29

Y1 - 2003/3/29

N2 - Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.

AB - Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.

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M3 - Article

C2 - 12701394

SN - 0028-2162

VL - 147

SP - 603

EP - 605

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

IS - 13

ER -

Van gen naar ziekte; de ziekte van Wilson: Koperstapeling door mutaties in ATP7B

Abstract

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