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Research Output 1977 2019

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. A., Gail Summers, C. & Mukherjee, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

Research output: Contribution to journalArticle

Retinal Dystrophies
Optic Atrophy
Microcephaly
Missense Mutation
Optic Nerve
1 Citation (Scopus)

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

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A. O., Hietala, A., Kenney-Jung, D. L., Lund, T. C., Miller, W., Pierpont, R., Raymond, G., Winslow, H., Zierhut, H. & Orchard, P. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree

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 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Inborn Urea Cycle Disorder
Rare Diseases
Industry
National Institutes of Health (U.S.)
Orphan Drug Production

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

Translational Medical Research
Newborn Infant
Research
Research Personnel
Rare Diseases

Health supervision for children with neurofibromatosis type 1

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, May 1 2019, In : Pediatrics. 143, 5, Y.

Research output: Contribution to journalReview article

Open Access
Neurofibromatosis 1
Inheritance Patterns
Health
Peripheral Nervous System
Growth and Development
1 Citation (Scopus)

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 1 2019, In : Annals of Neurology. 86, 1, p. 116-128 13 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Cognition
Therapeutics
Intellectual Disability
Liver Transplantation

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., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalReview article

Practice Guidelines
Medicine
Guidelines
Patient Harm
Genomics

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

Newborn Infant
Research
Bioethics
Translational Medical Research
Parents

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 1 2019, In : Molecular Genetics and Metabolism. 127, 4, p. 336-345 10 p.

Research output: Contribution to journalArticle

Open Access
Inborn Urea Cycle Disorder
Urea
Safety
Pediatrics
Ammonia
2 Citations (Scopus)

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 1 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 93-106 14 p.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Urea
Research
Inborn Urea Cycle Disorder
Ornithine Carbamoyltransferase Deficiency Disease
1 Citation (Scopus)

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

Exome
Craniosynostoses
Intellectual Disability
Seizures
Brain
2018
3 Citations (Scopus)

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

Congenital Disorders of Glycosylation
Fucosyltransferases
Mutation
Polysaccharides
Exome
11 Citations (Scopus)

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

Inborn Urea Cycle Disorder
Hyperargininemia
Biomarkers
Citrullinemia
Ammonia
4 Citations (Scopus)

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

Microcephaly
Protein Isoforms
Pons
Paraplegia
Mesencephalon

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
Chromosome Deletion
Necrotizing Enterocolitis
Chromosomes, Human, Pair 6
Siblings
Necrosis

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 1 2018, In : Molecular Genetics and Metabolism. 125, 3, p. 251-257 7 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Pediatrics
Pharmacokinetics
Urea
Acids
3 Citations (Scopus)

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
Research
Consensus
Consent Forms
Organized Financing
Information Storage and Retrieval
3 Citations (Scopus)
Noonan Syndrome
Neurofibromatosis 1
Language
Attention Deficit Disorder with Hyperactivity
Siblings

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

Rare Diseases
Urea
Research
Inborn Urea Cycle Disorder
Ornithine Carbamoyltransferase Deficiency Disease
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

Consanguinity
Inborn Errors Metabolism
Genetic Counseling
Genetic Testing
Fatty Acids
5 Citations (Scopus)

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
Propionic Acidemia
Inborn Errors Metabolism
Symptom Assessment
Information Systems
Newborn Infant
4 Citations (Scopus)

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 1 2017, In : Molecular Genetics and Metabolism. 122, 3, p. 46-53 8 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Urea
Safety
Glutamine
Ammonia
2016
2 Citations (Scopus)

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

Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Metabolism
Health
Newborn Infant
4 Citations (Scopus)

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

Screening
Newborn Infant
Health
Outcome Assessment (Health Care)
Public health
4 Citations (Scopus)

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

Inborn Urea Cycle Disorder
Glutamine
Urea
Ammonia
Odds Ratio
3 Citations (Scopus)

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

Inborn Errors Metabolism
Newborn Infant
Information Systems
Decision Making
Public Health
17 Citations (Scopus)

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

Long-Chain Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Genetic Association Studies
Information Systems
Metabolism
5 Citations (Scopus)

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

methylcrotonoyl-CoA carboxylase
Inborn Errors Metabolism
Information Systems
Metabolism
Screening
7 Citations (Scopus)

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

Homocysteine
Newborn Infant
Methionine
Early Diagnosis
Therapeutics
2015
17 Citations (Scopus)

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

Mutation
Pterygium
Scoliosis
Myosins
Exome
15 Citations (Scopus)

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

Inborn Urea Cycle Disorder
Glutamine
Ammonia
Fasting
Viverridae

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

6 Citations (Scopus)

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. A., 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

Interleukin-7 Receptors
T-Lymphocytes
Interleukin-7
Mutation
Schimke immunoosseous dysplasia
18 Citations (Scopus)

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

Newborn Infant
Jurisprudence
Public Health
Morbidity
Mortality
16 Citations (Scopus)
Missense Mutation
Phenotype
Neurilemmoma
Mutation
Hirsutism
45 Citations (Scopus)

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

Research Personnel
Incidental Findings
Research
Health
7 Citations (Scopus)

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

Inborn Urea Cycle Disorder
Pediatrics
Urea
Scavenging
Clinical Trials
1 Citation (Scopus)

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

Inborn Urea Cycle Disorder
Body Surface Area
Patient Compliance
Biomarkers
Clinical Trials
2014
58 Citations (Scopus)

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

Inborn Urea Cycle Disorder
Longitudinal Studies
Urea
Ornithine Carbamoyltransferase Deficiency Disease
Ornithine Carbamoyltransferase
1 Citation (Scopus)

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., Jan 1 2014, In : Genetics in Medicine. 16, 4, 1 p.

Research output: Contribution to journalComment/debate

Phenylketonurias
Medicine
Guidelines
23 Citations (Scopus)

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., Jan 1 2014, In : Molecular Genetics and Metabolism. 112, 1, p. 17-24 8 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Ammonia
Urea
Glutamine
Therapeutics
17 Citations (Scopus)

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

Research output: Contribution to journalArticle

Newborn Infant
Guidelines
Research
Ethical Analysis
National Institute of Child Health and Human Development (U.S.)
173 Citations (Scopus)

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., Jan 1 2014, In : Genetics in Medicine. 16, 2, p. 188-200 13 p.

Research output: Contribution to journalArticle

Phenylketonurias
Guidelines
Phenylalanine
Therapeutics
National Institutes of Health (U.S.)
23 Citations (Scopus)

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

Inborn Urea Cycle Disorder
Branched Chain Amino Acids
Urea
Plasmas
Metabolism
2013
49 Citations (Scopus)

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

Inborn Urea Cycle Disorder
Ammonia
Pediatrics
Executive Function
glycerol phenylbutyrate
31 Citations (Scopus)

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., Jan 1 2013, In : Journal of Pediatrics. 162, 6

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Ammonia
Argininosuccinic Aciduria
Argininosuccinic Acid
Hyperargininemia
20 Citations (Scopus)

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio

Mokhtarani, M., Diaz, G. A., Rhead, W., Berry, S. A., Lichter-Konecki, U., Feigenbaum, A., Schulze, A., Longo, N., Bartley, J., Berquist, W., Gallagher, R., Smith, W., McCandless, S. E., Harding, C., Rockey, D. C., Vierling, J. M., Mantry, P., Ghabril, M., Brown, R. S., Dickinson, K. & 8 others, Moors, T., Norris, C., Coakley, D., Milikien, D. A., Nagamani, S. C., LeMons, C., Lee, B. & Scharschmidt, B. F., Jan 1 2013, In : Molecular Genetics and Metabolism. 110, 4, p. 446-453 8 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Hepatic Encephalopathy
Urea
Plasmas
phenylacetic acid
8 Citations (Scopus)

Insurance coverage of medical foods for treatment of inherited metabolic disorders

Berry, S. A., Kenney, M. K., Harris, K. B., Singh, R. H., Cameron, C. A., Kraszewski, J. N., Levy-Fisch, J., Shuger, J. F., Greene, C. L., Lloyd-Puryear, M. A. & Boyle, C. A., Dec 1 2013, In : Genetics in Medicine. 15, 12, p. 978-982 5 p.

Research output: Contribution to journalArticle

Insurance Coverage
Food
Therapeutics
Proteins
Dietary Supplements
47 Citations (Scopus)

Newborn screening 50 years later: Access issues faced by adults with PKU

Berry, S. A., Brown, C., Grant, M., Greene, C. L., Jurecki, E., Koch, J., Moseley, K., Suter, R., Van Calcar, S. C., Wiles, J. & Cederbaum, S., Aug 1 2013, In : Genetics in Medicine. 15, 8, p. 591-599 9 p.

Research output: Contribution to journalReview article

Phenylketonurias
Newborn Infant
Phenylalanine
Diet
Inborn Errors Metabolism
16 Citations (Scopus)

Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: Disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders

Monteleone, J. P. R., Mokhtarani, M., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Berry, S. A., Mons, C. L., Dickinson, K., Coakley, D., Lee, B. & Scharschmidt, B. F., Jul 1 2013, In : Journal of Clinical Pharmacology. 53, 7, p. 699-710 12 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Nitrogen Compounds
Pharmacokinetics
Pediatrics
Population