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Akademický článek

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency

Autor: Rani H. Singh, Marie-Hélène Bourdages, Angela Kurtz, Erin MacLoed, Chelsea Norman, Suzanne Ratko, Sandra C. van Calcar, Aileen Kenneson

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Abstract Background The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in 2,000,000 live births. Hyperammonemic crises can be avoided in individuals

Externí odkaz: https://doaj.org/article/08bfb47202c14e21909182c3188a7416

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Akademický článek

Assessing the lived experiences of females with phenylketonuria in their health management

Autor: Abigail Aronoff, Yue Guan, Saran Gurung, Dawn L. Comeau, Rani H. Singh

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101095- (2024)

Introduction: The present study is a mixed-methods exploratory study aiming to understand the lived experiences of females with phenylketonuria (PKU) in managing their health. The study aims to identify what individual, interpersonal, and environment

Externí odkaz: https://doaj.org/article/dfd2f67b622c415a9edcac3123daa897

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Akademický článek

Assessing the lived experiences of females with phenylketonuria in their health management

Autor: Aronoff, Abigail, Guan, Yue, Gurung, Saran, Comeau, Dawn L., Singh, Rani H.

Publikováno v: In Molecular Genetics and Metabolism Reports September 2024 40

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Akademický článek

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Autor: Aileen Kenneson, Margite I. Borth, Rani H. Singh

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101092- (2024)

Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring. Women who gave birth to children with MPKUS

Externí odkaz: https://doaj.org/article/35f54aed490d4dee9f9f4b20c5e40222

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Akademický článek

Total choline intake and working memory performance in adults with phenylketonuria

Autor: Meriah S. Schoen, Kelly M. Boland, Shawn E. Christ, Xiangqin Cui, Usha Ramakrishnan, Thomas R. Ziegler, Jessica A. Alvarez, Rani H. Singh

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)

Abstract Background Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and other executive functio

Externí odkaz: https://doaj.org/article/163ffd247e484baba6c107baa4d52a2c

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Akademický článek

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Akademický článek

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Autor: Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)

Abstract Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy a

Externí odkaz: https://doaj.org/article/264e6bcb79a14e2da31c2cdf1bfd4fc6

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