Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

M. Mokhtarani; G. A. Diaz; W. Rhead; U. Lichter-Konecki; J. Bartley; A. Feigenbaum; N. Longo; W. Berquist; S. A. Berry; R. Gallagher; D. Bartholomew; C. O. Harding; M. S. Korson; S. E. McCandless; W. Smith; J. Vockley; S. Bart; D. Kronn; R. Zori; S. Cederbaum; N. Dorrani; J. L. Merritt; Sandesh Sreenath-Nagamani; M. Summar; C. LeMons; K. Dickinson; D. F. Coakley; T. L. Moors; B. Lee; B. F. Scharschmidt

doi:10.1016/j.ymgme.2012.08.006

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

M. Mokhtarani, G. A. Diaz, W. Rhead, U. Lichter-Konecki, J. Bartley, A. Feigenbaum, N. Longo, W. Berquist, S. A. Berry, R. Gallagher, D. Bartholomew, C. O. Harding, M. S. Korson, S. E. McCandless, W. Smith, J. Vockley, S. Bart, D. Kronn, R. Zori, S. CederbaumN. Dorrani, J. L. Merritt, Sandesh Sreenath-Nagamani, M. Summar, C. LeMons, K. Dickinson, D. F. Coakley, T. L. Moors, B. Lee, B. F. Scharschmidt

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

Original language	English
Pages (from-to)	308-314
Number of pages	7
Journal	Molecular Genetics and Metabolism
Volume	107
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2012.08.006
State	Published - Nov 2012
Externally published	Yes

ASJC Scopus Subject Areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

Keywords

Glycerol phenylbutyrate
Phenylacetic acid
Phenylacetylglutamine
Phenylbutyric acid
Sodium phenylbutyrate
Urea cycle disorders

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10.1016/j.ymgme.2012.08.006

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Mokhtarani, M., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S. A., Gallagher, R., Bartholomew, D., Harding, C. O., Korson, M. S., McCandless, S. E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., ... Scharschmidt, B. F. (2012). Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Molecular Genetics and Metabolism, 107(3), 308-314. https://doi.org/10.1016/j.ymgme.2012.08.006

Mokhtarani, M, Diaz, GA, Rhead, W, Lichter-Konecki, U, Bartley, J, Feigenbaum, A, Longo, N, Berquist, W, Berry, SA, Gallagher, R, Bartholomew, D, Harding, CO, Korson, MS, McCandless, SE, Smith, W, Vockley, J, Bart, S, Kronn, D, Zori, R, Cederbaum, S, Dorrani, N, Merritt, JL, Sreenath-Nagamani, S, Summar, M, LeMons, C, Dickinson, K, Coakley, DF, Moors, TL, Lee, B & Scharschmidt, BF 2012, 'Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 308-314. https://doi.org/10.1016/j.ymgme.2012.08.006

@article{bcd39446b92d4af6b23471a9d1a1563e,

title = "Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders",

keywords = "Glycerol phenylbutyrate, Phenylacetic acid, Phenylacetylglutamine, Phenylbutyric acid, Sodium phenylbutyrate, Urea cycle disorders",

author = "M. Mokhtarani and Diaz, {G. A.} and W. Rhead and U. Lichter-Konecki and J. Bartley and A. Feigenbaum and N. Longo and W. Berquist and Berry, {S. A.} and R. Gallagher and D. Bartholomew and Harding, {C. O.} and Korson, {M. S.} and McCandless, {S. E.} and W. Smith and J. Vockley and S. Bart and D. Kronn and R. Zori and S. Cederbaum and N. Dorrani and Merritt, {J. L.} and Sandesh Sreenath-Nagamani and M. Summar and C. LeMons and K. Dickinson and Coakley, {D. F.} and Moors, {T. L.} and B. Lee and Scharschmidt, {B. F.}",

note = "Funding Information: This study was sponsored by Hyperion Therapeutics . The authors gratefully acknowledge and thank the efforts of the study coordinators and nursing staff who made these trials possible, including N. Schrager (Mount Sinai School of Medicine), A. Donovan, J. Crawford, Pediatric TRU Staff, K. Defouw, J. Balliet (The Medical College of Wisconsin), M. Keuth, N. O'Donnell (Long Beach Memorial Hospital), M. Hussain, E. Bailey, M. Ambreen (The Hospital for Sick Children, University of Toronto, ON, Canada), C. Bailey, A. Lang (The University of Utah), J. Perry, V. de Leon, A. Niemi, K. Cusmano (Stanford University), T. Carlson, J. Parker (University of Minnesota), S. Burr (Children's Hospital Colorado), K. Simpson (Children's National Medical Center), K. Regis (Nationwide Children's Hospital), A. Behrend, T. Marrone (Oregon Health Sciences University), N. Dorrani (University of California, Los Angeles), C. Heggie (Case Western Reserve University), S. Mortenson (Maine Medical Center), S. Deward (Children's Hospital of Pittsburgh), K. Murray, C. Dedomenico (Tufts Medical Center), C. Gross (University of Florida), L. Brody (Seattle Children's Hospital), M. Mullins, S. Carter, A. Tran, J. Stuff, TCH General Clinical Research Center nursing staff (Baylor), K. Lisam (Hyperion), as well as the Clinical and Translational Science Awards/General Clinical Research Center Grants ( Baylor College of Medicine , M01RR00188 ; Case Western Reserve University , UL1RR024989 ; Clinical and Translational Science Institute at Children's National Medical Center NIH/NCRR , UL1RR31988 ; Medical College of Wisconsin , UL1RR31973 ; Mount Sinai School of Medicine , UL1RR29887 ; Oregon Health & Science University , UL1RR24140 ; Stanford University , UL1RR25744 ; Tufts University , UL1RR25752 ; University of California, Los Angeles , UL1RR33176 ; University of Colorado , UL1RR25780 ; University of Florida , UL1RR29890 ; University of Minnesota , UL1RR33183 ; University of Pittsburgh , UL1RR24153 , UL1TR000005 ; University of Utah , UL1RR25764 ; University of Washington , UL1RR25014 ), the Urea Cycle Disorders Consortium ( NIH Grant U54RR019453 ) and grants from the O'Malley Foundation and Kettering Fund which provided support. SCS. Nagamani is an awardee of the National Urea Cycle Disorders Foundation Research Fellowship .",

year = "2012",

month = nov,

doi = "10.1016/j.ymgme.2012.08.006",

language = "English",

volume = "107",

pages = "308--314",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

number = "3",

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TY - JOUR

T1 - Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

AU - Mokhtarani, M.

AU - Diaz, G. A.

AU - Rhead, W.

AU - Lichter-Konecki, U.

AU - Bartley, J.

AU - Feigenbaum, A.

AU - Longo, N.

AU - Berquist, W.

AU - Berry, S. A.

AU - Gallagher, R.

AU - Bartholomew, D.

AU - Harding, C. O.

AU - Korson, M. S.

AU - McCandless, S. E.

AU - Smith, W.

AU - Vockley, J.

AU - Bart, S.

AU - Kronn, D.

AU - Zori, R.

AU - Cederbaum, S.

AU - Dorrani, N.

AU - Merritt, J. L.

AU - Sreenath-Nagamani, Sandesh

AU - Summar, M.

AU - LeMons, C.

AU - Dickinson, K.

AU - Coakley, D. F.

AU - Moors, T. L.

AU - Lee, B.

AU - Scharschmidt, B. F.

N1 - Funding Information: This study was sponsored by Hyperion Therapeutics . The authors gratefully acknowledge and thank the efforts of the study coordinators and nursing staff who made these trials possible, including N. Schrager (Mount Sinai School of Medicine), A. Donovan, J. Crawford, Pediatric TRU Staff, K. Defouw, J. Balliet (The Medical College of Wisconsin), M. Keuth, N. O'Donnell (Long Beach Memorial Hospital), M. Hussain, E. Bailey, M. Ambreen (The Hospital for Sick Children, University of Toronto, ON, Canada), C. Bailey, A. Lang (The University of Utah), J. Perry, V. de Leon, A. Niemi, K. Cusmano (Stanford University), T. Carlson, J. Parker (University of Minnesota), S. Burr (Children's Hospital Colorado), K. Simpson (Children's National Medical Center), K. Regis (Nationwide Children's Hospital), A. Behrend, T. Marrone (Oregon Health Sciences University), N. Dorrani (University of California, Los Angeles), C. Heggie (Case Western Reserve University), S. Mortenson (Maine Medical Center), S. Deward (Children's Hospital of Pittsburgh), K. Murray, C. Dedomenico (Tufts Medical Center), C. Gross (University of Florida), L. Brody (Seattle Children's Hospital), M. Mullins, S. Carter, A. Tran, J. Stuff, TCH General Clinical Research Center nursing staff (Baylor), K. Lisam (Hyperion), as well as the Clinical and Translational Science Awards/General Clinical Research Center Grants ( Baylor College of Medicine , M01RR00188 ; Case Western Reserve University , UL1RR024989 ; Clinical and Translational Science Institute at Children's National Medical Center NIH/NCRR , UL1RR31988 ; Medical College of Wisconsin , UL1RR31973 ; Mount Sinai School of Medicine , UL1RR29887 ; Oregon Health & Science University , UL1RR24140 ; Stanford University , UL1RR25744 ; Tufts University , UL1RR25752 ; University of California, Los Angeles , UL1RR33176 ; University of Colorado , UL1RR25780 ; University of Florida , UL1RR29890 ; University of Minnesota , UL1RR33183 ; University of Pittsburgh , UL1RR24153 , UL1TR000005 ; University of Utah , UL1RR25764 ; University of Washington , UL1RR25014 ), the Urea Cycle Disorders Consortium ( NIH Grant U54RR019453 ) and grants from the O'Malley Foundation and Kettering Fund which provided support. SCS. Nagamani is an awardee of the National Urea Cycle Disorders Foundation Research Fellowship .

PY - 2012/11

Y1 - 2012/11

KW - Glycerol phenylbutyrate

KW - Phenylacetic acid

KW - Phenylacetylglutamine

KW - Phenylbutyric acid

KW - Sodium phenylbutyrate

KW - Urea cycle disorders

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UR - http://www.scopus.com/inward/citedby.url?scp=84867901846&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2012.08.006

DO - 10.1016/j.ymgme.2012.08.006

M3 - Article

C2 - 22958974

AN - SCOPUS:84867901846

SN - 1096-7192

VL - 107

SP - 308

EP - 314

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

ASJC Scopus Subject Areas

Keywords

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