Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family.

Autor: Çıkı K; Department of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey., Özgül RK; Department of Pediatric Metabolism, Institute of Child Health, Hacettepe Universitesi Tip Fakultesi, Ankara, Turkey., Yildiz Y; Department of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Publikováno v: Klinische Padiatrie [Klin Padiatr] 2024 Sep; Vol. 236 (5), pp. 311-313. Date of Electronic Publication: 2022 Dec 20.

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.

Autor: Nielsen MR; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics and of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Jørgensen C; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics and of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Ahring K; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics and of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics and of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Ørngreen MC; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics and of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 586-594. Date of Electronic Publication: 2023 Mar 06.

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.

Autor: Feillet F; Hôpital d'enfants Brabois, INSERM 1256 NGERE, Faculty of Medicine, Vandoeuvre les Nancy, France., Ficicioglu C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lagler FB; Institute of Inherited Metabolic Diseases and Department of Pediatrics, Paracelsus Medical Private University, Salzburg, Austria., Longo N; University of Utah, Salt Lake City, Utah, USA., Muntau AC; University Children's Hospital, Medical Center Hamburg-Eppendorf, Hamburg, Germany., Burlina A; University Hospital, Padova, Italy., Trefz FK; Division of Inborn Metabolic Diseases, University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands., Arnoux JB; Necker-Enfants Malades University Hospital, Paris, France., Lindstrom K; BioMarin Pharmaceutical Inc, Novato, California, USA., Lilienstein J; BioMarin Pharmaceutical Inc, Novato, California, USA., Clague GE; BioMarin Pharmaceutical Inc, Novato, California, USA., Rowell R; BioMarin Pharmaceutical Inc, Novato, California, USA., Burton BK; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 636-650. Date of Electronic Publication: 2024 Mar 03.

Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes.

Autor: Su, Haiyang^1,2 (AUTHOR), Zhang, Huiwen³ (AUTHOR), Wu, Jiao² (AUTHOR), Huang, Lin⁴ (AUTHOR), Zhang, Mengji² (AUTHOR), Xu, Wei⁵ (AUTHOR), Cao, Jing² (AUTHOR), Liu, Wanshan³ (AUTHOR), Liu, Ning⁶ (AUTHOR), Jiang, Hongwei¹ (AUTHOR) jianghw@haust.edu.cn, Gu, Xuefan³ (AUTHOR) guxuefan@xinhuamed.com.cn, Qian, Kun² (AUTHOR) k.qian@sjtu.edu.cn

Publikováno v: Advanced Science. 4/17/2024, Vol. 11 Issue 15, p1-13. 13p.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

Autor: Grohmann-Held K; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Division of Pediatrics, University Children's Hospital Greifswald, Greifswald, Germany., Burgard P; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Baerwald CGO; Division of Rheumatology, Department of Internal Medicine, University of Leipzig, Leipzig, Germany., Beblo S; Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany., Vom Dahl S; Department of Gastroenterology, Hepatology and Infectiology, University Hospital Düsseldorf, Düsseldorf, Germany., Das A; Pediatric Metabolic Medicine, Clinic for Pediatric Kidney, Liver- and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Dokoupil K; Dr. von Hauner Children's Hospital, Munich, Germany., Fleissner S; Dr. von Hauner Children's Hospital, Munich, Germany., Freisinger P; Children's Hospital Reutlingen, Reutlingen, Germany., Heddrich-Ellerbrok M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Jung A; Interdisciplinary Center for Metabolism Endocrinology, Diabetes and Metabolism and Center of Excellence for Rare Metabolic Diseases in Adults, Charité-Universitätsmedizin, Berlin, Germany., Korpel V; Department of Gastroenterology, Hepatology and Infectiology, University Hospital Düsseldorf, Düsseldorf, Germany., Krämer J; Neuropediatrics and Metabolism, Department of Pediatrics, University Hospital Ulm, Ulm, Germany., Lier D; Children's Hospital Reutlingen, Reutlingen, Germany., Maier EM; Dr. von Hauner Children's Hospital, Munich, Germany., Meyer U; Pediatric Metabolic Medicine, Clinic for Pediatric Kidney, Liver- and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Mühlhausen C; Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, Georg-August-University, Göttingen, Germany., Newger M; Department of Gastroenterology, Hepatology and Infectiology, University Hospital Düsseldorf, Düsseldorf, Germany., Och U; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Plöckinger U; Interdisciplinary Center for Metabolism Endocrinology, Diabetes and Metabolism and Center of Excellence for Rare Metabolic Diseases in Adults, Charité-Universitätsmedizin, Berlin, Germany., Rosenbaum-Fabian S; Department of Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Faculty of Medicine, Freiburg, Germany., Rutsch F; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schick P; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Schwarz M; Practice for Internal Medicine, Kaarst, Germany., Spiekerkötter U; Department of Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Faculty of Medicine, Freiburg, Germany., Strittmatter U; Neuropediatrics and Metabolism, Department of Pediatrics, University Hospital Ulm, Ulm, Germany., Thiele AG; Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany., Ziagaki A; Interdisciplinary Center for Metabolism Endocrinology, Diabetes and Metabolism and Center of Excellence for Rare Metabolic Diseases in Adults, Charité-Universitätsmedizin, Berlin, Germany., Mütze U; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Gleich F; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Garbade SF; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Kölker S; Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1070-1081. Date of Electronic Publication: 2022 Aug 22.