PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA

MA Chen; Saskia Wortmann; LD Botto; CR Coughlin; M Descartes; M Kyriss; B Maranda; J Pitt; C Potente; R Rodenburg; S Sampath; P van Settend; G Vockley; PJ Waters; JA Thomas; JL Weber; SM White; GE Tiller; RA Wevers

PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA

MA Chen, Saskia Wortmann, LD Botto, CR Coughlin, M Descartes, M Kyriss, B Maranda, J Pitt, C Potente, R Rodenburg, S Sampath, P van Settend, G Vockley, PJ Waters, JA Thomas, JL Weber, SM White, GE Tiller, RA Wevers

Department of Pediatrics

Research output: Contribution to journal › published Abstract (Journal) › peer-review

Original language	English
Pages (from-to)	250-251
Journal	MOLECULAR GENETICS AND METABOLISM
Volume	117
Issue number	3
Publication status	Published - 2016
Event	39th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) - Ponte Vedra Beach, FL Duration: 3 Apr 2016 → 6 Apr 2016

Cite this

Chen, MA., Wortmann, S., Botto, LD., Coughlin, CR., Descartes, M., Kyriss, M., Maranda, B., Pitt, J., Potente, C., Rodenburg, R., Sampath, S., van Settend, P., Vockley, G., Waters, PJ., Thomas, JA., Weber, JL., White, SM., Tiller, GE., & Wevers, RA. (2016). PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA. MOLECULAR GENETICS AND METABOLISM , 117(3), 250-251.

Chen, MA ; Wortmann, Saskia ; Botto, LD et al. / PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA. In: MOLECULAR GENETICS AND METABOLISM 2016 ; Vol. 117, No. 3. pp. 250-251.

@article{16bf8f58f846467aa31f0fd423552091,

title = "PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA",

author = "MA Chen and Saskia Wortmann and LD Botto and CR Coughlin and M Descartes and M Kyriss and B Maranda and J Pitt and C Potente and R Rodenburg and S Sampath and {van Settend}, P and G Vockley and PJ Waters and JA Thomas and JL Weber and SM White and GE Tiller and RA Wevers",

year = "2016",

language = "English",

volume = "117",

pages = "250--251",

journal = "MOLECULAR GENETICS AND METABOLISM ",

issn = "1096-7192",

publisher = "Elsevier ",

number = "3",

note = "39th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) ; Conference date: 03-04-2016 Through 06-04-2016",

}

Chen, MA, Wortmann, S, Botto, LD, Coughlin, CR, Descartes, M, Kyriss, M, Maranda, B, Pitt, J, Potente, C, Rodenburg, R, Sampath, S, van Settend, P, Vockley, G, Waters, PJ, Thomas, JA, Weber, JL, White, SM, Tiller, GE & Wevers, RA 2016, 'PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA', MOLECULAR GENETICS AND METABOLISM , vol. 117, no. 3, pp. 250-251.

PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA. / Chen, MA; Wortmann, Saskia; Botto, LD et al.
In: MOLECULAR GENETICS AND METABOLISM , Vol. 117, No. 3, 2016, p. 250-251.

Research output: Contribution to journal › published Abstract (Journal) › peer-review

TY - JOUR

T1 - PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA

AU - Chen, MA

AU - Wortmann, Saskia

AU - Botto, LD

AU - Coughlin, CR

AU - Descartes, M

AU - Kyriss, M

AU - Maranda, B

AU - Pitt, J

AU - Potente, C

AU - Rodenburg, R

AU - Sampath, S

AU - van Settend, P

AU - Vockley, G

AU - Waters, PJ

AU - Thomas, JA

AU - Weber, JL

AU - White, SM

AU - Tiller, GE

AU - Wevers, RA

PY - 2016

Y1 - 2016

M3 - published Abstract (Journal)

SN - 1096-7192

VL - 117

SP - 250

EP - 251

JO - MOLECULAR GENETICS AND METABOLISM

JF - MOLECULAR GENETICS AND METABOLISM

IS - 3

T2 - 39th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD)

Y2 - 3 April 2016 through 6 April 2016

ER -

Chen MA, Wortmann S, Botto LD, Coughlin CR, Descartes M, Kyriss M et al. PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA. MOLECULAR GENETICS AND METABOLISM . 2016;117(3):250-251.