Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine

R. A. Roesel; J. E. Carroll; W. B. Rizzo; T. van der Zalm; D. A. Hahn

doi:10.1007/BF01800466

Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine

R. A. Roesel
, J. E. Carroll
, W. B. Rizzo
, T. van der Zalm
, D. A. Hahn

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

13 Scopus citations

Abstract

A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.

Original language	English (US)
Pages (from-to)	876-880
Number of pages	5
Journal	Journal of Inherited Metabolic Disease
Volume	14
Issue number	6
DOIs	https://doi.org/10.1007/BF01800466
State	Published - Nov 1991
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/BF01800466

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title = "Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine",

abstract = "A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.",

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year = "1991",

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AU - Roesel, R. A.

AU - Carroll, J. E.

AU - Rizzo, W. B.

AU - van der Zalm, T.

AU - Hahn, D. A.

PY - 1991/11

Y1 - 1991/11

N2 - A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.

AB - A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.

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AN - SCOPUS:0026048259

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Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine

Abstract

ASJC Scopus subject areas

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