Mild Orotic Aciduria in UMPS Heterozygotes: a Metabolic Finding Without Clinical Consequences

Maria Descartes, et al; Maria Descartes

Mild Orotic Aciduria in UMPS Heterozygotes: a Metabolic Finding Without Clinical Consequences

Maria Descartes, et al, Maria Descartes

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

Original language	American English
Journal	Journal of Inherited Metabolic Disease
Volume	40
State	Published - 2017

Disciplines

Medicine and Health Sciences

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@article{c806f2a1e3f44ddb804519fc88d90b34,

title = "Mild Orotic Aciduria in UMPS Heterozygotes: a Metabolic Finding Without Clinical Consequences",

author = "\{Descartes, et al\}, Maria and Maria Descartes",

note = "We therefore conclude that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hy ...",

year = "2017",

language = "American English",

volume = "40",

journal = "Journal of Inherited Metabolic Disease",

}

TY - JOUR

T1 - Mild Orotic Aciduria in UMPS Heterozygotes: a Metabolic Finding Without Clinical Consequences

AU - Descartes, et al, Maria

AU - Descartes, Maria

N1 - We therefore conclude that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hy ...

PY - 2017

Y1 - 2017

UR - https://pubmed.ncbi.nlm.nih.gov/28205048/

M3 - Article

VL - 40

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

ER -

Mild Orotic Aciduria in UMPS Heterozygotes: a Metabolic Finding Without Clinical Consequences

Disciplines

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