Výsledky vyhledávání - "PKU / Phenylketonuria"

Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects

Autor: M. Breederveld, N Ahmadi Mozafari, Johannes H.M. Levels, Mirjam Langeveld, Mark Davids, J.G. Langendonk, C. Timmer, Max Nieuwdorp

Publikováno v: Molecular genetics and metabolism reports, 29:100794. Elsevier BV
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100794-(2021)
Molecular Genetics and Metabolism Reports, 29:100794. Elsevier
Molecular Genetics and Metabolism Reports

Urea cycle disorders (UCDs) are a group of rare inherited metabolic diseases causing hyperammonemic encephalopathy. Despite intensive dietary and pharmacological therapy, outcome is poor in a subset of UCD patients. Reducing ammonia production by cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d52893a52c18903ec2665d11b82070
https://pure.amc.nl/en/publications/differences-in-faecal-microbiome-composition-between-adult-patients-with-ucd-and-pku-and-healthy-control-subjects(8b172534-1d02-4ab8-b0a4-088245e4f97d).html

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A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials

Autor: Elaina Jurecki, Nicola Longo, H. Serap Sivri, Deborah A. Bilder, Janet A. Thomas, Christoph Baerwald, Gisela Wilcox, Kathleen A. Delaney, Cary O. Harding, Anne Skalicky, Aaron B. Ilan, Barbara K. Burton, David T. Madden

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100810-(2021)
Molecular Genetics and Metabolism Reports

Introduction: Current clinical outcome assessments (COAs) are not effectively capturing the complex array of symptoms of adults with phenylketonuria (PKU). This study aimed to identify concepts of interest relevant to adults with PKU. Based on these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0a4e2acecac53d0452b69488ebd8a6a
http://www.sciencedirect.com/science/article/pii/S2214426921001051

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Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

Autor: Hulya Gokmen-Ozel, Esther van Dam, Amaya Belanger-Quintana, Fran Rohr, Alexandra Jung, Júlio César Rocha, Laurie Bernstein, Anita MacDonald, Heather Bausell, Margret Heddrich-Ellerbrok

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100771-(2021)
Molecular genetics and metabolism reports, 28:100771. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Funding Information: Outside the submitted work, the authors disclose the following. Bausell H received personal fees from BioMarin, Ultragenyx, Horizon and Vitaflo. Bélanger-Quintana A reports personal fees from BioMarin, Nutricia, Vitaflo, Orphan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7938b8f45f942ba77838bd72abd58add
http://www.sciencedirect.com/science/article/pii/S2214426921000653

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Untreated PKU patients without intellectual disability

Autor: K, Klaassen, M, Djordjevic, A, Skakic, B, Kecman, R, Drmanac, S, Pavlovic, M, Stojiljkovic

Publikováno v: Molecular Genetics and Metabolism Reports

Phenylketonuria (PKU) is an inborn error of metabolism caused by variants in the phenylalanine hydroxylase (PAH) gene and it is characterized by excessively high levels of phenylalanine in body fluids. PKU is a paradigm for a genetic disease that can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7fbe94863584467b6f88057b7209056d
https://pubmed.ncbi.nlm.nih.gov/34900593

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The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study

Autor: Sébastien Urben, Nevena Dimitrova, Jennifer Glaus, Diana Ballhausen, Valentine Wüthrich, Mathilde Morisod Harari

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100795-(2021)
Molecular genetics and metabolism reports, vol. 29, pp. 100795

Background: Inborn errors of metabolism (IEMs) refer to rare heterogeneous genetic disorders with various clinical manifestations that can cause serious physical and psychological sequelae. Results of previous studies on the impact of an IEM on healt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::432b1aeca2e74558ae19bab586aa55dc
https://pubmed.ncbi.nlm.nih.gov/34504770

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The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

Autor: Katrin Õunap, Kai Muru, Karit Reinson, Tiina Kahre, Kadi Künnapas, Ülle Murumets, Hardo Lilleväli, Siret Saarsalu

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports

Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria (PKU) patients have been deposited into a unified electronic laboratory database for eight years, providing an opportunity to assess the adherence of the pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18c5857d8339794956088198c3cb3f3
http://www.sciencedirect.com/science/article/pii/S2214426919300266

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Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients

Autor: Endre Horvath, Csaba Sumanszki, Csilla Serfozo, Béla Csákány, András Gellért Barta, Péter Reismann, Miklós D. Resch, Zoltán Zsolt Nagy

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100649-(2020)
Molecular Genetics and Metabolism Reports

Purpose: Retinal changes are poorly described in early treated phenylketonuria (ETPKU). We aimed to investigate possible visual functional and ocular microstructural changes in adult patients with ETPKU. Optical coherence tomography (OCT) and its ang

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9624aa6d7f652c1bb5d58c5c239a202
http://www.sciencedirect.com/science/article/pii/S2214426920300951

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Autor: E. Kiss, Zsófia Turgonyi, András Gellért Barta, Csaba Sumanszki, Péter Reismann, Csilla Serfőző, Erika Simon

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

Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ce04742c80165e2e664334c05cd03d
http://www.sciencedirect.com/science/article/pii/S2214426920300355

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Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers

Autor: Erlane Marques Ribeiro, Ana Maria Martins, André Luiz Santos Pessoa, Andrea Amaro Quesada

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100624-(2020)

Background Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a372a7c750cd72e067d67dc5c25f6677
https://pubmed.ncbi.nlm.nih.gov/32742934

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