Hypocarnitinemia in lysinuric protein intolerance

Stanley H. Korman; Annick Raas-Rothschild; Orly Elpeleg; Alisa Gutman

doi:10.1016/S1096-7192(02)00019-7

Hypocarnitinemia in lysinuric protein intolerance

Stanley H. Korman^*, Annick Raas-Rothschild, Orly Elpeleg, Alisa Gutman

^*Corresponding author for this work

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

7 Scopus citations

Abstract

Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine.

Original language	English
Pages (from-to)	81-83
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	76
Issue number	1
DOIs	https://doi.org/10.1016/S1096-7192(02)00019-7
State	Published - 2002
Externally published	Yes

Keywords

Carnitine deficiency
Lysinuric protein intolerance

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10.1016/S1096-7192(02)00019-7

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title = "Hypocarnitinemia in lysinuric protein intolerance",

abstract = "Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine.",

keywords = "Carnitine deficiency, Lysinuric protein intolerance",

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AU - Korman, Stanley H.

AU - Raas-Rothschild, Annick

AU - Elpeleg, Orly

AU - Gutman, Alisa

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Y1 - 2002

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AB - Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine.

KW - Carnitine deficiency

KW - Lysinuric protein intolerance

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AN - SCOPUS:0036384320

SN - 1096-7192

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EP - 83

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1

ER -

Hypocarnitinemia in lysinuric protein intolerance

Abstract

Keywords

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