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Akademický článek

Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations

Autor: Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

Background: Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine. Untreated, PKU is characterized by a range of neuropsychol

Externí odkaz: https://doaj.org/article/ba0af300337446a0b8094852528a28d1

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Akademický článek

Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic

Autor: Janet Thomas MD, Mina Nguyen-Driver PsyD, Heather Bausell RD, LDN, Jane Breck MD, Javier Zambrano MD, Vanessa Birardi PharmD

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)

Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic after the age of 18 years. To understand why adult patien

Externí odkaz: https://doaj.org/article/63631d3eed86453ca417181d4908b9ec

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Altered DNA methylation in PAH deficient phenylketonuria

Autor: Steven F. Dobrowolski, Kayla Spridik, A. Biery, Jerry Vockley, Tamanna Sultana, Jane Breck, Svetlana Yatsenko, James Lyons-Weiler

Publikováno v: Molecular Genetics and Metabolism. 115:72-77

While phenylalanine (PHE) is the toxic insult in phenylketonuria (PKU), mechanisms underlying PHE toxicity remain ill-defined. Altered DNA methylation in response to toxic exposures is well-recognized. DNA methylation patterns were assessed in blood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b980bae2ab2d79cb49931516f1de2d
https://doi.org/10.1016/j.ymgme.2015.04.002

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Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic

Autor: Heather Bausell, Janet A. Thomas, Jane Breck, Mina Nguyen-Driver, Vanessa Birardi, Javier Zambrano

Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.5 2017
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 5, Article number: e170015, Published: 16 MAY 2019
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533424852cd65ae4f6e8f7a8137f3e74
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100403

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A simplified PKU gene carrier detection test using fasting blood

Autor: Beverly Tenenholz, Mark W. Steele, Jane Breck, Sharon L. Wenger

Publikováno v: Clinical Genetics. 23:115-119

By fluorometric analysis of fasting phenylalanine and tyrosine plasma levels, we could discriminate classic gene PKU carriers from non-carriers with 99% confidence in 67 of 74 adults. Results on the remaining seven subjects were non-discriminating. H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679f1f75ac5e687f5e2b5bd1fdbcbd3e
https://doi.org/10.1111/j.1399-0004.1983.tb01858.x

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Intake and Blood Levels of Fatty Acids in Treated Patients With Phenylketonuria

Autor: Mary Jane Kennedy, Jane Breck, Steven Yannicelli, Richard Koch, Fran Rohr, Phyllis B. Acosta, Louis J. Eisas, Cristine Trahms, Laurie Bernstein, Rani H. Singh

Publikováno v: Journal of Pediatric Gastroenterology and Nutrition. 33:253-259

Investigators in Italy and Spain have suggested that therapy for patients with phenylketonuria (PKU) may result in essential fatty acid (EFA) deficiency. Objectives of this study were to determine if the diets of patients with PKU in the United State

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190c5dc998b27bade7a3dac5246ee47c
https://doi.org/10.1097/00005176-200109000-00005

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Relative reliability of three different discriminant analysis methods for detecting PKU gene carriers

Autor: Jane Breck, Sharon L. Wenger, P. W. Vieira, Mark W. Steele

Publikováno v: Clinical Genetics. 30:38-40

A previously derived discriminant function for detecting classical PKU gene carriers without a priori pedigree probability was reevaluated using a large sample size. The test involves fluorometric measurement of fasting phenylalanine and tyrosine pla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e113da6e293b180325d0062799c1096
https://doi.org/10.1111/j.1399-0004.1986.tb00566.x

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