Prenatal treatment of ornithine transcarbamylase deficiency

Yael Wilnai; Yair J. Blumenfeld; Kristina Cusmano; Susan R. Hintz; Deborah Alcorn; William E. Benitz; William E. Berquist; Jonathan A. Bernstein; Ricardo O. Castillo; Waldo Concepcion; Tina M. Cowan; Kenneth L. Cox; Deirdre J. Lyell; Carlos O. Esquivel; Margaret Homeyer; Louanne Hudgins; Melissa Hurwitz; Jonathan P. Palma; Susan Schelley; Vishnu Priya Akula; Marshall L. Summar; Gregory M. Enns

doi:10.1016/j.ymgme.2018.01.004

Prenatal treatment of ornithine transcarbamylase deficiency

Yael Wilnai, Yair J. Blumenfeld, Kristina Cusmano, Susan R. Hintz, Deborah Alcorn, William E. Benitz, William E. Berquist, Jonathan A. Bernstein, Ricardo O. Castillo, Waldo Concepcion, Tina M. Cowan, Kenneth L. Cox, Deirdre J. Lyell, Carlos O. Esquivel, Margaret Homeyer, Louanne Hudgins, Melissa Hurwitz, Jonathan P. Palma, Susan Schelley, Vishnu Priya AkulaMarshall L. Summar, Gregory M. Enns

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

Original language	English
Pages (from-to)	297-300
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	123
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2018.01.004
State	Published - Mar 2018
Externally published	Yes

ASJC Scopus Subject Areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

Keywords

Liver transplantation
Neurological outcome
Nitrogen-scavenging medication
OTC deficiency
Prenatal treatment

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10.1016/j.ymgme.2018.01.004

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Wilnai, Y., Blumenfeld, Y. J., Cusmano, K., Hintz, S. R., Alcorn, D., Benitz, W. E., Berquist, W. E., Bernstein, J. A., Castillo, R. O., Concepcion, W., Cowan, T. M., Cox, K. L., Lyell, D. J., Esquivel, C. O., Homeyer, M., Hudgins, L., Hurwitz, M., Palma, J. P., Schelley, S., ... Enns, G. M. (2018). Prenatal treatment of ornithine transcarbamylase deficiency. Molecular Genetics and Metabolism, 123(3), 297-300. https://doi.org/10.1016/j.ymgme.2018.01.004

Wilnai, Y, Blumenfeld, YJ, Cusmano, K, Hintz, SR, Alcorn, D, Benitz, WE, Berquist, WE, Bernstein, JA, Castillo, RO, Concepcion, W, Cowan, TM, Cox, KL, Lyell, DJ, Esquivel, CO, Homeyer, M, Hudgins, L, Hurwitz, M, Palma, JP, Schelley, S, Akula, VP, Summar, ML & Enns, GM 2018, 'Prenatal treatment of ornithine transcarbamylase deficiency', Molecular Genetics and Metabolism, vol. 123, no. 3, pp. 297-300. https://doi.org/10.1016/j.ymgme.2018.01.004

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title = "Prenatal treatment of ornithine transcarbamylase deficiency",

keywords = "Liver transplantation, Neurological outcome, Nitrogen-scavenging medication, OTC deficiency, Prenatal treatment",

author = "Yael Wilnai and Blumenfeld, {Yair J.} and Kristina Cusmano and Hintz, {Susan R.} and Deborah Alcorn and Benitz, {William E.} and Berquist, {William E.} and Bernstein, {Jonathan A.} and Castillo, {Ricardo O.} and Waldo Concepcion and Cowan, {Tina M.} and Cox, {Kenneth L.} and Lyell, {Deirdre J.} and Esquivel, {Carlos O.} and Margaret Homeyer and Louanne Hudgins and Melissa Hurwitz and Palma, {Jonathan P.} and Susan Schelley and Akula, {Vishnu Priya} and Summar, {Marshall L.} and Enns, {Gregory M.}",

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year = "2018",

month = mar,

doi = "10.1016/j.ymgme.2018.01.004",

language = "English",

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AU - Wilnai, Yael

AU - Blumenfeld, Yair J.

AU - Cusmano, Kristina

AU - Hintz, Susan R.

AU - Alcorn, Deborah

AU - Benitz, William E.

AU - Berquist, William E.

AU - Bernstein, Jonathan A.

AU - Castillo, Ricardo O.

AU - Concepcion, Waldo

AU - Cowan, Tina M.

AU - Cox, Kenneth L.

AU - Lyell, Deirdre J.

AU - Esquivel, Carlos O.

AU - Homeyer, Margaret

AU - Hudgins, Louanne

AU - Hurwitz, Melissa

AU - Palma, Jonathan P.

AU - Schelley, Susan

AU - Akula, Vishnu Priya

AU - Summar, Marshall L.

AU - Enns, Gregory M.

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KW - Liver transplantation

KW - Neurological outcome

KW - Nitrogen-scavenging medication

KW - OTC deficiency

KW - Prenatal treatment

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Prenatal treatment of ornithine transcarbamylase deficiency

ASJC Scopus Subject Areas

Keywords

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