Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

A. B. van Kuilenburg; P. Vreken; D. Riva; G. Botteon; N. G. Abeling; H. D. Bakker; A. H. van Gennip

doi:https://doi.org/10.1023/A:1005470524203

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

A. B. van Kuilenburg, P. Vreken, D. Riva, G. Botteon, N. G. Abeling, H. D. Bakker, A. H. van Gennip

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

14 Citations (Scopus)

Original language	English
Pages (from-to)	191-192
Journal	Journal of Inherited Metabolic Disease
Volume	22
Issue number	2
DOIs	https://doi.org/10.1023/A:1005470524203
Publication status	Published - 1999

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https://doi.org/10.1023/A:1005470524203

Cite this

@article{8485906185844356b9579440ca03c919,

title = "Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation",

author = "{van Kuilenburg}, {A. B.} and P. Vreken and D. Riva and G. Botteon and Abeling, {N. G.} and Bakker, {H. D.} and {van Gennip}, {A. H.}",

year = "1999",

doi = "https://doi.org/10.1023/A:1005470524203",

language = "English",

volume = "22",

pages = "191--192",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "2",

}

TY - JOUR

T1 - Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

AU - van Kuilenburg, A. B.

AU - Vreken, P.

AU - Riva, D.

AU - Botteon, G.

AU - Abeling, N. G.

AU - Bakker, H. D.

AU - van Gennip, A. H.

PY - 1999

Y1 - 1999

U2 - https://doi.org/10.1023/A:1005470524203

DO - https://doi.org/10.1023/A:1005470524203

M3 - Article

C2 - 10234617

SN - 0141-8955

VL - 22

SP - 191

EP - 192

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -