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Research Output

2020

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Berry, S. A., Coughlin, C. R., McCandless, S., McCarter, R., Seminara, J., Yudkoff, M. & LeMons, C., Jan 1 2020, In : Genetics in Medicine. 22, 1, p. 219-226 8 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group, May 1 2020, In : Human mutation. 41, 5, p. 946-960 15 p.

Research output: Contribution to journalArticle

Health care supervision for children with Williams syndrome

COUNCIL ON GENETICS EXECUTIVE COMMITTEE, Feb 1 2020, In : Pediatrics. 145, 2

Research output: Contribution to journalArticle

Open Access

Medical foods for inborn errors of metabolism: History, current status, and critical need

on behalf of the Follow-up and Treatment (FUTR) Workgroup for the Advisory Committee on Heritable Disorders in Newborns and Children, Mar 1 2020, In : Pediatrics. 145, 3, e20192261.

Research output: Contribution to journalArticle

2019

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S., Gail Summers, C. & Mukherjee, K., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

McNeill, A. M., Hudock, R. L., Foy, A. M. H., Shanley, R., Semrud-Clikeman, M., Pierpont, M. E., Berry, S. A., Sommer, K., Moertel, C. L. & Pierpont, E. I., Dec 1 2019, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2433-2446 14 p.

Research output: Contribution to journalArticle

Foundation of the Newborn Screening Translational Research Network and its tools for research

Lloyd-Puryear, M., Brower, A., Berry, S. A., Brosco, J. P., Bowdish, B. & Watson, M. S., Jun 1 2019, In : Genetics in Medicine. 21, 6, p. 1271-1279 9 p.

Research output: Contribution to journalReview article

1 Scopus citations

Health supervision for children with neurofibromatosis type 1

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, May 2019, In : Pediatrics. 143, 5, Y.

Research output: Contribution to journalReview article

Open Access
6 Scopus citations

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

for the Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group, Jul 2019, In : Annals of Neurology. 86, 1, p. 116-128 13 p.

Research output: Contribution to journalArticle

3 Scopus citations

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines

Burke, W., Clayton, E. W., Wolf, S. M., Berry, S. A., Evans, B. J., Evans, J. P., Hall, R., Korngiebel, D., Laberge, A. M., LeRoy, B. S. & McGuire, A. L., Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2431-2438 8 p.

Research output: Contribution to journalReview article

2 Scopus citations

Including ELSI research questions in newborn screening pilot studies

for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network, Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 525-533 9 p.

Research output: Contribution to journalArticle

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Diaz, G. A., Schulze, A., Longo, N., Rhead, W., Feigenbaum, A., Wong, D., Merritt, J. L., Berquist, W., Gallagher, R. C., Bartholomew, D., McCandless, S. E., Smith, W. E., Harding, C. O., Zori, R., Lichter-Konecki, U., Vockley, J., Canavan, C., Vescio, T., Holt, R. J. & Berry, S. A., Aug 2019, In : Molecular Genetics and Metabolism. 127, 4, p. 336-345 10 p.

Research output: Contribution to journalArticle

Open Access

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Additional Individual Contributors Of The Ucdc And The E-Imd Consortium, Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 93-106 14 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Torti, E., Keren, B., Palmer, E. E., Zhu, Z., Afenjar, A., Anderson, I. J., Andrews, M. V., Atkinson, C., Au, M., Berry, S. A., Bowling, K. M., Boyle, J., Buratti, J., Cathey, S. S., Charles, P., Cogne, B., Courtin, T., Escobar, L. F., Finley, S. L., Graham, J. M. & 33 others, Grange, D. K., Heron, D., Hewson, S., Hiatt, S. M., Hibbs, K. A., Jayakar, P., Kalsner, L., Larcher, L., Lesca, G., Mark, P. R., Miller, K., Nava, C., Nizon, M., Pai, G. S., Pappas, J., Parsons, G., Payne, K., Putoux, A., Rabin, R., Sabatier, I., Shinawi, M., Shur, N., Skinner, S. A., Valence, S., Warren, H., Whalen, S., Crunk, A., Douglas, G., Monaghan, K. G., Person, R. E., Willaert, R., Solomon, B. D. & Juusola, J., Sep 1 2019, In : Genetics in Medicine. 21, 9, p. 2036-2042 7 p.

Research output: Contribution to journalArticle

2 Scopus citations
2018

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Ng, B. G., Xu, G., Chandy, N., Steyermark, J., Shinde, D. N., Radtke, K., Raymond, K., Lebrilla, C. B., AlAsmari, A., Suchy, S. F., Powis, Z., Faqeih, E. A., Berry, S. A., Kronn, D. F. & Freeze, H. H., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Members of the Urea Cycle Disorders Consortium, Jul 1 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 657-667 11 p.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., May 1 2018, In : European Journal of Human Genetics. 26, 5, p. 695-708 14 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Necrotizing enterocolitis in two siblings and an unrelated infant with overlapping chromosome 6q25 deletions

Esdal, H. C. D., Ghbeis, M. B., Saltzman, D. A., Hess, D., Hume, J. R., Reed, R. C., Berry, S. A., Hoggard, E., Hirsch, B., Baughn, L. B. & Schimmenti, L. A., May 1 2018, In : Molecular Syndromology. 9, 3, p. 141-148 8 p.

Research output: Contribution to journalArticle

Open Access

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders

Berry, S. A., Vockley, J., Vinks, A. A., Dong, M., Diaz, G. A., McCandless, S. E., Smith, W. E., Harding, C. O., Zori, R., Ficicioglu, C., Lichter-Konecki, U., Perdok, R., Robinson, B., Holt, R. J. & Longo, N., Nov 2018, In : Molecular Genetics and Metabolism. 125, 3, p. 251-257 7 p.

Research output: Contribution to journalArticle

Open Access

Pragmatic tools for sharing genomic research results with the relatives of living and deceased research participants

Wolf, S. M., Scholtes, E., Koenig, B. A., Petersen, G. M., Berry, S. A., Beskow, L. M., Daly, M. B., Fernandez, C. V., Green, R. C., LeRoy, B. S., Lindor, N. M., O’Rourke, P., Breitkopf, C. R., Rothstein, M. A., Ness, B. V. & Wilfond, B. S., Jan 1 2018, In : Journal of Law, Medicine and Ethics. 46, 1, p. 87-109 23 p.

Research output: Contribution to journalComment/debate

Open Access
5 Scopus citations
Open Access
6 Scopus citations

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

Additional Individual Contributors Of The Ucdc And The E-Imd Consortium, Jul 4 2018, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-13 13 p.

Research output: Contribution to journalArticle

3 Scopus citations
2017

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein, Q. P., Vockley, C. W., Edick, M. J., Zhai, S., Hiner, S. J., Loman, R. S., Davis-Keppen, L., Zuck, T. A., Cameron, C. A., Berry, S. A. & For The Inborn Errors Of Metabolism Collaborative, Dec 1 2017, In : Journal of Genetic Counseling. 26, 6, p. 1238-1243 6 p.

Research output: Contribution to journalArticle

Open Access

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

McCrory, N. M., Edick, M. J., Ahmad, A., Lipinski, S., Scott Schwoerer, J. A., Zhai, S., Justice, K., Cameron, C. A., Berry, S. A., Pena, L. D. M. & Inborn Errors of Metabolism Collaborative, Jan 1 2017, In : Journal of Pediatrics. 180, p. 200-205.e8

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years

Berry, S. A., Longo, N., Diaz, G. A., McCandless, S. E., Smith, W. E., Harding, C. O., Zori, R., Ficicioglu, C., Lichter-Konecki, U., Robinson, B. & Vockley, J., Nov 2017, In : Molecular Genetics and Metabolism. 122, 3, p. 46-53 8 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations
2016

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J. & Berry, S. A., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), Aug 1 2016, In : Molecular Genetics and Metabolism. 118, 4, p. 221-229 9 p.

Research output: Contribution to journalComment/debate

5 Scopus citations

Glutamine and hyperammonemic crises in patients with urea cycle disorders

Lee, B., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S. A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S. C., Berquist, W., Gallagher, R. C., Harding, C. O., McCandless, S. E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D. F., Mokhtarani, M. & 1 others, Scharschmidt, B. F., Jan 1 2016, In : Molecular Genetics and Metabolism. 117, 1, p. 27-32 6 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Inborn Errors of Metabolism Collaborative: Large-scale collection of data on long-term follow-up for newborn-screened conditions

Berry, S. A., Leslie, N. D., Edick, M. J., Hiner, S., Justice, K. & Cameron, C., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1276-1281 6 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Pena, L. D. M., van Calcar, S. C., Hansen, J., Edick, M. J., Walsh Vockley, C., Leslie, N., Cameron, C., Mohsen, A. W., Berry, S. A., Arnold, G. L. & Vockley, J., Aug 1 2016, In : Molecular Genetics and Metabolism. 118, 4, p. 272-281 10 p.

Research output: Contribution to journalArticle

23 Scopus citations

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

Forsyth, R. L., Vockley, C. W., Edick, M. J., Cameron, C. A., Hiner, S. J., Berry, S. A., Vockley, J. & Arnold, G. L., May 1 2016, In : Molecular Genetics and Metabolism. 118, 1, p. 15-20 6 p.

Research output: Contribution to journalArticle

7 Scopus citations

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

Wong, D., Tortorelli, S., Bishop, L., Sellars, E. A., Schimmenti, L. A., Gallant, N., Prada, C. E., Hopkin, R. J., Leslie, N. D., Berry, S. A., Rosenblatt, D. S., Fair, A. L., Matern, D., Raymond, K., Oglesbee, D., Rinaldo, P. & Gavrilov, D., Feb 1 2016, In : Genetics in Medicine. 18, 2, p. 162-167 6 p.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations
2015

Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3

Chong, J. X., Burrage, L. C., Beck, A. E., Marvin, C. T., McMillin, M. J., Shively, K. M., Harrell, T. M., Buckingham, K. J., Bacino, C. A., Jain, M., Alanay, Y., Berry, S. A., Carey, J. C., Gibbs, R. A., Lee, B. H., Krakow, D., Shendure, J., Nickerson, D. A., Abecasis, G. R., Anderson, P. & 44 others, Blue, E. M., Annable, M., Browning, B. L., Chen, C., Chin, J., Cooper, G. M., Davis, C. P., Frazar, C., He, Z., Jain, P., Jarvik, G. P., Jimenez, G., Johanson, E., Jun, G., Kircher, M., Kolar, T., Krauter, S. A., Krumm, N., Leal, S. M., Luksic, D., McGee, S., O'Reilly, P., Paeper, B., Patterson, K., Perez, M., Phillips, S. W., Pijoan, J., Poel, C., Reinier, F., Robertson, P. D., Santos-Cortez, R., Shaffer, T., Shephard, C., Siegel, D. L., Smith, J. D., Staples, J. C., Tabor, H. K., Tackett, M., Underwood, J. G., Wegener, M., Wang, G., Wheeler, M. M., Yi, Q. & Bamshad, M. J., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 841-849 9 p.

Research output: Contribution to journalArticle

21 Scopus citations

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

UCD Consortium, Jul 2 2015, In : Genetics in Medicine. 17, 7, p. 561-568 8 p.

Research output: Contribution to journalArticle

19 Scopus citations

Erratum: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder (Genetics in Medicine (2014))

Lee, B., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S. A., Mons, C. L., Bartley, J. A., Longo, N., Nagamani, S. C., Berquist, W., Gallagher, R., Bartholomew, D., Harding, C. O., Korson, M. S., McCandless, S. E., Smith, W., Cederbaum, S., Wong, D., Lawrence Merritt, J. & 10 others, Schulze, A., Vockley, J., Kronn, D., Zori, R., Summar, M., Milikien, D. A., Marino, M., Coakley, D. F., Mokhtarani, M. & Scharschmidt, B. F., May 8 2015, In : Genetics in Medicine. 17, 5, 1 p.

Research output: Contribution to journalComment/debate

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)

Sanyal, M., Morimoto, M., Baradaran-Heravi, A., Choi, K., Kambham, N., Jensen, K., Dutt, S., Dionis-Petersen, K. Y., Liu, L. X., Felix, K., Mayfield, C., Dekel, B., Bokenkamp, A., Fryssira, H., Guillen-Navarro, E., Lama, G., Brugnara, M., Lücke, T., Olney, A. H., Hunley, T. E. & 12 others, Polat, A. I., Yis, U., Bogdanovic, R., Mitrovic, K., Berry, S., Najera, L., Najafian, B., Gentile, M., Nur Semerci, C., Tsimaratos, M., Lewis, D. B. & Boerkoel, C. F., Dec 1 2015, In : Clinical Immunology. 161, 2, p. 355-365 11 p.

Research output: Contribution to journalArticle

7 Scopus citations

Newborn Screening

Berry, S. A., Jun 1 2015, In : Clinics in Perinatology. 42, 2, p. 441-453 13 p.

Research output: Contribution to journalReview article

22 Scopus citations
18 Scopus citations

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

Wolf, S. M., Branum, R., Koenig, B. A., Petersen, G. M., Berry, S. A., Beskow, L. M., Daly, M. B., Fernandez, C. V., Green, R. C., Leroy, B. S., Lindor, N. M., O'Rourke, P. P., Breitkopf, C. R., Rothstein, M. A., Van Ness, B. & Wilfond, B. S., Sep 1 2015, In : Journal of Law, Medicine and Ethics. 43, 3, p. 440-463 24 p.

Research output: Contribution to journalArticle

54 Scopus citations

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Nagamani, S. C. S., Diaz, G. A., Rhead, W., Berry, S. A., Le Mons, C., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Schulze, A., Longo, N., Berquist, W., Gallagher, R., Bartholomew, D., Harding, C. O., Korson, M. S., McCandless, S. E., Smith, W., Vockley, J., Kronn, D., Zori, R. & 9 others, Cederbaum, S., Lawrence Merritt, J., Wong, D., Coakley, D. F., Scharschmidt, B. F., Dickinson, K., Marino, M., Lee, B. H. & Mokhtarani, M., Sep 1 2015, In : Molecular Genetics and Metabolism. 116, 1-2, p. 29-34 6 p.

Research output: Contribution to journalArticle

7 Scopus citations

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

Mokhtarani, M., Diaz, G. A., Lichter-Konecki, U., Berry, S. A., Bartley, J., McCandless, S. E., Smith, W., Harding, C., Le Mons, C., Coakley, D. F., Lee, B. & Scharschmidt, B. F., Dec 1 2015, In : Molecular Genetics and Metabolism Reports. 5, p. 12-14 3 p.

Research output: Contribution to journalArticle

2 Scopus citations
2014

A longitudinal study of urea cycle disorders

Members of the Urea Cycle Disorders Consortium, Sep 1 2014, In : Molecular Genetics and Metabolism. 113, 1, p. 127-130 4 p.

Research output: Contribution to journalArticle

64 Scopus citations

Erratum: Phenylalanine hydroxylase deficiency: Diagnosis and management guideline (Genetics in Medicine (2014) 16:2 (188-200) DOI:10.1038/gim.2013.157)

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Apr 2014, In : Genetics in Medicine. 16, 4, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

Berry, S. A., Lichter-Konecki, U., Diaz, G. A., McCandless, S. E., Rhead, W., Smith, W., LeMons, C., Nagamani, S. C. S., Coakley, D. F., Mokhtarani, M., Scharschmidt, B. F. & Lee, B., May 2014, In : Molecular Genetics and Metabolism. 112, 1, p. 17-24 8 p.

Research output: Contribution to journalArticle

23 Scopus citations

Parental permission for pilot newborn screening research: Guidelines from the NBSTRN

Botkin, J. R., Lewis, M. H., Watson, M. S., Swoboda, K. J., Anderson, R., Berry, S. A., Bonhomme, N., Brosco, J. P., Comeau, A. M., Goldenberg, A., Goldman, E., Therrell, B., Levy-Fisch, J., Tarini, B., Wilfond, B., Dobrowolski, S., Brower, A. & Vizcarrondo, F., Feb 1 2014, In : Pediatrics. 133, 2, p. e410-e417

Research output: Contribution to journalArticle

18 Scopus citations

Phenylalanine hydroxylase deficiency: Diagnosis and management guideline

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Feb 2014, In : Genetics in Medicine. 16, 2, p. 188-200 13 p.

Research output: Contribution to journalArticle

207 Scopus citations

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

Burrage, L. C., Jain, M., Gandolfo, L., Lee, B. H., Batshaw, M. L., Tuchman, M., Summar, M. L., Baumgartner, M. R., Berry, S. A., Cederbaum, S., Diaz, G. A., Feigenbaum, A., Gallagher, R. C., Harding, C. O., Hoffmann, G., Kerr, D. S., Lee, B., Lichter-Konecki, U., McCandless, S. E., Merritt, J. L. & 8 others, Schulze, A., Seashore, M. R., Stricker, T., Waisbren, S., Wong, D., Yudkoff, M., Nagamani, S. C. S. & Urea Cycle Disorders Consortium, Sep 1 2014, In : Molecular Genetics and Metabolism. 113, 1, p. 131-135 5 p.

Research output: Contribution to journalArticle

25 Scopus citations
2013

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

Diaz, G. A., Krivitzky, L. S., Mokhtarani, M., Rhead, W., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S. A., Gallagher, R., Lichter-Konecki, U., Bartholomew, D., Harding, C. O., Cederbaum, S., Mccandless, S. E., Smith, W., Vockley, G., Bart, S. A., Korson, M. S., Kronn, D. & 10 others, Zori, R., Merritt, J. L., Nagamani, S. C. S., Mauney, J., Lemons, C., Dickinson, K., Moors, T. L., Coakley, D. F., Scharschmidt, B. F. & Lee, B., Jun 1 2013, In : Hepatology. 57, 6, p. 2171-2179 9 p.

Research output: Contribution to journalArticle

51 Scopus citations

Ammonia control in children ages 2 months through 5 years with urea cycle disorders: Comparison of sodium phenylbutyrate and glycerol phenylbutyrate

Smith, W., Diaz, G. A., Lichter-Konecki, U., Berry, S. A., Harding, C. O., McCandless, S. E., LeMons, C., Mauney, J., Dickinson, K., Coakley, D. F., Moors, T., Mokhtarani, M., Scharschmidt, B. F. & Lee, B., Jun 2013, In : Journal of Pediatrics. 162, 6, p. 1228-1234.e1

Research output: Contribution to journalArticle

31 Scopus citations