A new case of dihydropyrimidine dehydrogenase deficiency

M. Brockstedt; C. Jakobs; L. M. E. Smit; A. H. van Gennip; R. Berger

doi:10.1007/BF01799339

A new case of dihydropyrimidine dehydrogenase deficiency

M. Brockstedt^*
, C. Jakobs
, L. M. E. Smit
, A. H. van Gennip
, R. Berger

^*Corresponding author for this work

Amsterdam UMC - Vrije Universiteit Amsterdam
University of Amsterdam
University of Groningen

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

Abstract

We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia. © 1990 Kluwer Academic Publishers.

Original language	English
Pages (from-to)	121-124
Journal	Journal of inherited metabolic disease
Volume	13
Issue number	1
DOIs	https://doi.org/10.1007/BF01799339
Publication status	Published - Jan 1990
Externally published	Yes

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10.1007/BF01799339

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title = "A new case of dihydropyrimidine dehydrogenase deficiency",

abstract = "We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia. {\textcopyright} 1990 Kluwer Academic Publishers.",

author = "M. Brockstedt and C. Jakobs and Smit, \{L. M. E.\} and \{van Gennip\}, \{A. H.\} and R. Berger",

year = "1990",

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doi = "10.1007/BF01799339",

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AU - Berger, R.

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N2 - We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia. © 1990 Kluwer Academic Publishers.

AB - We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia. © 1990 Kluwer Academic Publishers.

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UR - https://www.ncbi.nlm.nih.gov/pubmed/2109146

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DO - 10.1007/BF01799339

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VL - 13

SP - 121

EP - 124

JO - Journal of inherited metabolic disease

JF - Journal of inherited metabolic disease

IS - 1

ER -

A new case of dihydropyrimidine dehydrogenase deficiency

Abstract

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