Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Saskia Wortmann; Margaret A Chen; Roberto Colombo; Alessandro Pontoglio; Bader Alhaddad; Lorenzo D Botto; Tatiana Yuzyuk; Curtis R Coughlin; Maria Descartes; Stephanie Grűnewald; Bruno Maranda; Philippa B Mills; James Pitt; Catherine Potente; Richard Rodenburg; Leo A J Kluijtmans; Srirangan Sampath; Emil F Pai; Ron A Wevers; George E Tiller

doi:10.1007/s10545-017-0015-9

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Saskia Wortmann^* (First author), Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller

^*Corresponding author for this work

Department of Pediatrics

Research output: Contribution to journal › Original Article (Journal) › peer-review

11 Citations (Web of Science)

Original language	English
Pages (from-to)	423-431
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	40
Issue number	3
DOIs	https://doi.org/10.1007/s10545-017-0015-9
Publication status	Published - 2017

Keywords

MEGALOBLASTIC-ANEMIA
MOLECULAR-CLONING
SYNTHASE GENE
URIDINE
DECARBOXYLASE
FIBROBLASTS

Access to Document

10.1007/s10545-017-0015-9

Cite this

Wortmann, S., Chen, M. A., Colombo, R., Pontoglio, A., Alhaddad, B., Botto, L. D., Yuzyuk, T., Coughlin, C. R., Descartes, M., Grűnewald, S., Maranda, B., Mills, P. B., Pitt, J., Potente, C., Rodenburg, R., Kluijtmans, L. A. J., Sampath, S., Pai, E. F., Wevers, R. A., & Tiller, G. E. (2017). Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. JOURNAL OF INHERITED METABOLIC DISEASE , 40(3), 423-431. https://doi.org/10.1007/s10545-017-0015-9

Wortmann, Saskia ; Chen, Margaret A ; Colombo, Roberto et al. / Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. In: JOURNAL OF INHERITED METABOLIC DISEASE 2017 ; Vol. 40, No. 3. pp. 423-431.

@article{cf88d87387ed44ad8d224e4569d09ca7,

title = "Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.",

keywords = "MEGALOBLASTIC-ANEMIA, MOLECULAR-CLONING, SYNTHASE GENE, URIDINE, DECARBOXYLASE, FIBROBLASTS",

author = "Saskia Wortmann and Chen, {Margaret A} and Roberto Colombo and Alessandro Pontoglio and Bader Alhaddad and Botto, {Lorenzo D} and Tatiana Yuzyuk and Coughlin, {Curtis R} and Maria Descartes and Stephanie Gr{\H u}newald and Bruno Maranda and Mills, {Philippa B} and James Pitt and Catherine Potente and Richard Rodenburg and Kluijtmans, {Leo A J} and Srirangan Sampath and Pai, {Emil F} and Wevers, {Ron A} and Tiller, {George E}",

note = "Department of PediatricsSalzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU)SalzburgAustria",

year = "2017",

doi = "10.1007/s10545-017-0015-9",

language = "English",

volume = "40",

pages = "423--431",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

issn = "0141-8955",

number = "3",

}

Wortmann, S, Chen, MA, Colombo, R, Pontoglio, A, Alhaddad, B, Botto, LD, Yuzyuk, T, Coughlin, CR, Descartes, M, Grűnewald, S, Maranda, B, Mills, PB, Pitt, J, Potente, C, Rodenburg, R, Kluijtmans, LAJ, Sampath, S, Pai, EF, Wevers, RA & Tiller, GE 2017, 'Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 40, no. 3, pp. 423-431. https://doi.org/10.1007/s10545-017-0015-9

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. / Wortmann, Saskia (First author); Chen, Margaret A; Colombo, Roberto et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 40, No. 3, 2017, p. 423-431.

Research output: Contribution to journal › Original Article (Journal) › peer-review

TY - JOUR

T1 - Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

AU - Wortmann, Saskia

AU - Chen, Margaret A

AU - Colombo, Roberto

AU - Pontoglio, Alessandro

AU - Alhaddad, Bader

AU - Botto, Lorenzo D

AU - Yuzyuk, Tatiana

AU - Coughlin, Curtis R

AU - Descartes, Maria

AU - Grűnewald, Stephanie

AU - Maranda, Bruno

AU - Mills, Philippa B

AU - Pitt, James

AU - Potente, Catherine

AU - Rodenburg, Richard

AU - Kluijtmans, Leo A J

AU - Sampath, Srirangan

AU - Pai, Emil F

AU - Wevers, Ron A

AU - Tiller, George E

N1 - Department of PediatricsSalzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU)SalzburgAustria

PY - 2017

Y1 - 2017

KW - MEGALOBLASTIC-ANEMIA

KW - MOLECULAR-CLONING

KW - SYNTHASE GENE

KW - URIDINE

KW - DECARBOXYLASE

KW - FIBROBLASTS

U2 - 10.1007/s10545-017-0015-9

DO - 10.1007/s10545-017-0015-9

M3 - Original Article (Journal)

C2 - 28205048

SN - 0141-8955

VL - 40

SP - 423

EP - 431

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 3

ER -

Wortmann S, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD et al. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. JOURNAL OF INHERITED METABOLIC DISEASE . 2017;40(3):423-431. doi: 10.1007/s10545-017-0015-9