Zobrazeno 1 - 10
of 117
pro vyhledávání: '"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
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
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
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
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100865- (2022)
Background: Breast milk is considered the optimal first food for infants. Breastfeeding infants with inherited metabolic disorders (IMDs) is complex due to the critical need to manage intake of specific macronutrients depending on the type of IMD. Ob
Externí odkaz:
https://doaj.org/article/76b8b187993e453b88c5be7205ba5871
Autor:
Aileen Kenneson, Rani H. Singh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and mortality. Since it
Externí odkaz:
https://doaj.org/article/16a2a7972bd54f23a72f097fa7cf7a76
Autor:
Kathryn E. Coakley, Suzanne Porter‐Bolton, Mary L. Salvatore, Rosalynn B. Blair, Rani H. Singh
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 103-110 (2020)
Summary Phenylketonuria (PKU) is a genetic disorder characterized by insufficient metabolism of phenylalanine. Depending on severity, patients follow a low‐phenylalanine diet and may consume medical food (MF) and low‐protein modified foods; dieta
Externí odkaz:
https://doaj.org/article/7e4cb2a9bc944e9bb78e10bb34bdd313
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 50-59 (2019)
Abstract Background Intake of large neutral amino acids (LNAA) may inhibit phenylalanine (PHE) transport across the blood brain barrier and assist with blood PHE control in patients with phenylketonuria (PKU). We evaluated the interrelationship betwe
Externí odkaz:
https://doaj.org/article/6d1fa543c98a4a05a187ca6aa1e17682
Publikováno v:
Journal of Primary Care & Community Health, Vol 12 (2021)
Introduction: Primary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures
Externí odkaz:
https://doaj.org/article/cbdb7359ad3a4868861b98e0e063bba5