Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Kirsten K. Ahring"'
Autor:
Júlio C. Rocha, Álvaro Hermida, Cheryl J. Jones, Yunchou Wu, Gillian E. Clague, Sarah Rose, Kaleigh B. Whitehall, Kirsten K. Ahring, André L. S. Pessoa, Cary O. Harding, Fran Rohr, Anita Inwood, Nicola Longo, Ania C. Muntau, Serap Sivri, François Maillot
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-22 (2024)
Abstract Background Lifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or low-Phe medical foods/protein substitutes. Studies have reported low b
Externí odkaz:
https://doaj.org/article/15082e08da8b449cac44d28e7fa3df9c
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Autor:
Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-51 (2024)
Abstract Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary
Externí odkaz:
https://doaj.org/article/2dc70781578846fc93ab92e719142d46
Autor:
Júlio César Rocha, Kirsten K. Ahring, Heather Bausell, Deborah A. Bilder, Cary O. Harding, Anita Inwood, Nicola Longo, Ania C. Muntau, André L. Santos Pessoa, Fran Rohr, Serap Sivri, Álvaro Hermida
Publikováno v:
Nutrients, Vol 15, Iss 18, p 3940 (2023)
Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low phenylalanine (Phe) diet with protein substitutes/medical foods) to maintain blood Phe concentrations within recommended ranges and prevent PKU-associated comorbiditie
Externí odkaz:
https://doaj.org/article/2068e16e9ca341faa64ac060a258f026
Autor:
Kirsten K. Ahring, Allan M. Lund, Erik Jensen, Thomas G. Jensen, Karen Brøndum-Nielsen, Michael Pedersen, Allan Bardow, Jens Juul Holst, Jens F. Rehfeld, Lisbeth B. Møller
Publikováno v:
Journal of Nutrition and Metabolism, Vol 2018 (2018)
Introduction. Management of phenylketonuria (PKU) is achieved through low-phenylalanine (Phe) diet, supplemented with low-protein food and mixture of free-synthetic (FS) amino acid (AA). Casein glycomacropeptide (CGMP) is a natural peptide released i
Externí odkaz:
https://doaj.org/article/4dd620c5c0d74e229a6660cc019cb87a
Autor:
Kirsten K. Ahring, Maria Depenweiller, Kathryn Moseley, Shoji Yano, Burcu Kumru, Annie Prince, Jane Nikles
Publikováno v:
Molecular Genetics and Metabolism. 135:257
Autor:
H Serap, Kalkanoğlu, Kirsten K, Ahring, Durdu, Sertkaya, Lisbeth Birk, Møller, Anne, Romstad, Ingrid, Mikkelsen, Per, Guldberg, Hans C, Lou, Flemming, Güttler
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 94(9)
To evaluate the effects of phenylalanine (Phe)-free essential amino acid (AA) tablets enriched in tyrosine and tryptophan on the performance of intellectually disabled adult patients with untreated phenylketonuria (PKU).Phe-free AA tablets and placeb
Autor:
Kirsten K Ahring, Frederik Dagnæs-Hansen, Annemarie Brüel, Mette Christensen, Erik Jensen, Thomas G Jensen, Mogens Johannsen, Karen S Johansen, Allan M Lund, Jesper G Madsen, Karen Brøndum-Nielsen, Michael Pedersen, Lambert K Sørensen, Mads Kjolby, Lisbeth B Møller
Publikováno v:
PLoS ONE, Vol 17, Iss 1, p e0261150 (2022)
IntroductionManagement of phenylketonuria (PKU) is mainly achieved through dietary control with limited intake of phenylalanine (Phe) from food, supplemented with low protein (LP) food and a mixture of free synthetic (FS) amino acids (AA) (FSAA). Cas
Externí odkaz:
https://doaj.org/article/cd95c51ea310445993f44c4034fd8132
Autor:
Pinto A; Birmingham Children's Hospital, Birmingham B4 6NH, UK.; School of Health Professions, Faculty of Health, University of Plymouth, Plymouth PL4 6AB, UK., Ahring K; Department of PKU, Copenhagen University Hospital, 2100 København, Denmark., Almeida MF; Centro de Genética Médica, Unidade Local de Saúde de Santo António, E.P.E. (ULSSA), 4099-028 Porto, Portugal.; Centro de Referência na área de Doenças Hereditárias do Metabolismo, Unidade Local de Saúde de Santo António, E.P.E. (ULSSA), 4099-001 Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, 4050-313 Porto, Portugal., Ashmore C; Birmingham Children's Hospital, Birmingham B4 6NH, UK., Bélanger-Quintana A; Unidad de Enfermedades Metabólicas Congénitas, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, University Hospital, 35128 Padova, Italy., Coşkun T; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey., Daly A; Birmingham Children's Hospital, Birmingham B4 6NH, UK., van Dam E; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., Dursun A; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey., Evans S; Birmingham Children's Hospital, Birmingham B4 6NH, UK., Feillet F; Department of Paediatrics, Reference Center for Inborn Errors of Metabolism, Hôpital d'Enfants Brabois, CHU Nancy, 54500 Vandoeuvre les Nancy, France., Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, 70-204 Szczecin, Poland., Gökmen-Özel H; Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, 06100 Ankara, Turkey., Hickson M; School of Health Professions, Faculty of Health, University of Plymouth, Plymouth PL4 6AB, UK., Hoekstra Y; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., Ilgaz F; Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, 06100 Ankara, Turkey., Jackson R; Cancer Research UK Liverpool Cancer Trials Unit, University of Liverpool, Liverpool L69 3GL, UK., Leśniak A; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, 70-204 Szczecin, Poland., Loro C; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, University Hospital, 35128 Padova, Italy., Malicka K; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, 70-204 Szczecin, Poland., Patalan M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, 70-204 Szczecin, Poland., Rocha JC; Nutrition and Metabolism, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal.; CINTESIS, NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal.; Reference Centre of Inherited Metabolic Diseases, Unidade Local de Saúde, 1169-045 Lisboa, Portugal.; Comprehensive Health Research Centre (CHRC), NOVA Medical School|Faculdade de Ciências Médicas, NMS|FCM, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal., Sivri S; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey., Rodenburg I; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., Strączek K; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, 70-204 Szczecin, Poland., Tokatli A; Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey., MacDonald A; Birmingham Children's Hospital, Birmingham B4 6NH, UK.
Publikováno v:
Nutrients [Nutrients] 2024 Aug 31; Vol. 16 (17). Date of Electronic Publication: 2024 Aug 31.
Autor:
Venegas E; Endocrinology and Nutrition Department, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Langeveld S; Danone Research & Innovation, 3584 CT Utrecht, The Netherlands., Ahring K; Department of Phenylketonuria, Copenhagen University Hospital, 2100 Copenhagen, Denmark., Benitez R; Endocrinology and Nutrition Department, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Desloovere A; Department of Pediatric Neurology, Center for Inherited Metabolic Disorders, University Hospital Ghent, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 9000 Ghent, Belgium., Dios E; Endocrinology and Nutrition Department, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Gómez E; Unit for Diagnosis and Treatment of Congenital Metabolic Disorders, University Clinical Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain., Hermida A; Unit for Diagnosis and Treatment of Congenital Metabolic Disorders, University Clinical Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain., Marsaux C; Danone Research & Innovation, 3584 CT Utrecht, The Netherlands., Verloo P; Department of Pediatric Neurology, Center for Inherited Metabolic Disorders, University Hospital Ghent, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 9000 Ghent, Belgium., Couce ML; Unit for Diagnosis and Treatment of Congenital Metabolic Disorders, University Clinical Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.
Publikováno v:
Nutrients [Nutrients] 2024 Aug 15; Vol. 16 (16). Date of Electronic Publication: 2024 Aug 15.
Autor:
Pinto A; Birmingham Children's Hospital, Birmingham B4 6NH, UK.; School of Health Professions, Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK., Ahring K; Departments of Paediatrics and Clinical Genetics, PKU Clinic, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark., Almeida MF; Centro de Genética Médica, Unidade Local de Saúde de Santo António, E.P.E. (ULSSA), 4099-028 Porto, Portugal.; Centro de Referência na área de Doenças Hereditárias do Metabolismo, Unidade Local de Saúde de Santo António, E.P.E. (ULSSA), 4099-001 Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, 4050-313 Porto, Portugal., Ashmore C; Birmingham Children's Hospital, Birmingham B4 6NH, UK., Bélanger-Quintana A; Unidad de Enfermedades Metabólicas Congénitas, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, University Hospital, 35128 Padova, Italy., Coşkun T; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Gevher Nesibe Cd., 06230 Ankara, Turkey., Daly A; Birmingham Children's Hospital, Birmingham B4 6NH, UK., van Dam E; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., Dursun A; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Gevher Nesibe Cd., 06230 Ankara, Turkey., Evans S; Birmingham Children's Hospital, Birmingham B4 6NH, UK., Feillet F; Department of Paediatrics, Reference Center for Inborn Errors of Metabolism, Hôpital d'Enfants Brabois, CHU Nancy, 54500 Vandoeuvre les Nancy, France., Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 70-204 Szczecin, Poland., Gökmen-Özel H; Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, 06100 Ankara, Turkey., Hickson M; School of Health Professions, Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK., Hoekstra Y; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., Ilgaz F; Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, 06100 Ankara, Turkey., Jackson R; Cancer Research UK Liverpool Cancer Trials Unit, University of Liverpool, Liverpool L69 3GL, UK., Leśniak A; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 70-204 Szczecin, Poland., Loro C; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, University Hospital, 35128 Padova, Italy., Malicka K; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 70-204 Szczecin, Poland., Patalan M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 70-204 Szczecin, Poland., Rocha JC; Nutrition and Metabolism, NOVA Medical School (NMS), Faculdade de Ciências Médicas, (FCM), Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal.; Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS), NOVA Medical School (NMS), Faculdade de Ciências Médicas, (FCM), Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal.; Reference Centre of Inherited Metabolic Diseases, Unidade Local de Saúde, 1169-045 Lisboa, Portugal.; Comprehensive Health Research Centre (CHRC), NOVA Medical School, (NMS), Faculdade de Ciências Médicas (FCM), Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal., Sivri S; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Gevher Nesibe Cd., 06230 Ankara, Turkey., Rodenburg I; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands., Strączek K; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 70-204 Szczecin, Poland., Tokatli A; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Gevher Nesibe Cd., 06230 Ankara, Turkey., MacDonald A; Birmingham Children's Hospital, Birmingham B4 6NH, UK.
Publikováno v:
Nutrients [Nutrients] 2024 Jun 28; Vol. 16 (13). Date of Electronic Publication: 2024 Jun 28.