Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

Autor: Bélanger-Quintana A; Department of Paediatric Inborn Errors of Metabolism, Hospital Universitario Ramón y Cajal, Carretera de Colmenar Viejo, Km. 9, 100, 28034 Madrid, Spain., Arrieta Blanco F; Department of Adult Inborn Errors of Metabolism, Hospital Universitario Ramón y Cajal, Carretera de Colmenar Viejo, Km. 9, 100, 28034 Madrid, Spain., Barrio-Carreras D; Department of Inborn Errors of Metabolism, Hospital Universitario 12 de Octubre, Avenida de Córdoba, s/n, 28041 Madrid, Spain., Bergua Martínez A; Department of Paediatric Nutrition and Metabolic Diseases, Hospital Universitario La Paz, Paseo de la Castellana, 261, 28046 Madrid, Spain., Cañedo Villarroya E; Department of Gastroenterology and Nutrition, Hospital Universitario Niño Jesús, Avenida de Menéndez Pelayo, 65, 28009 Madrid, Spain., García-Silva MT; Department of Inborn Errors of Metabolism, Hospital Universitario 12 de Octubre, Avenida de Córdoba, s/n, 28041 Madrid, Spain., Lama More R; Department of Paediatric Nutrition, Centro Médico D-Medical, Calle del Príncipe de Vergara, 44, 28001 Madrid, Spain., Martín-Hernández E; Department of Inborn Errors of Metabolism, Hospital Universitario 12 de Octubre, Avenida de Córdoba, s/n, 28041 Madrid, Spain., López AM; Department of Paediatric Nutrition and Metabolic Diseases, Hospital Universitario La Paz, Paseo de la Castellana, 261, 28046 Madrid, Spain., Morales-Conejo M; Department of Internal Medicine, Hospital Universitario 12 de Octubre, Avenida de Córdoba, s/n, 28041 Madrid, Spain., Pedrón-Giner C; Department of Gastroenterology and Nutrition, Hospital Universitario Niño Jesús, Avenida de Menéndez Pelayo, 65, 28009 Madrid, Spain., Quijada-Fraile P; Department of Inborn Errors of Metabolism, Hospital Universitario 12 de Octubre, Avenida de Córdoba, s/n, 28041 Madrid, Spain., Stanescu S; Department of Paediatric Inborn Errors of Metabolism, Hospital Universitario Ramón y Cajal, Carretera de Colmenar Viejo, Km. 9, 100, 28034 Madrid, Spain., Casanova MM; Department of Paediatric Inborn Errors of Metabolism, Hospital Universitario Ramón y Cajal, Carretera de Colmenar Viejo, Km. 9, 100, 28034 Madrid, Spain.

Publikováno v: Nutrients [Nutrients] 2022 Jul 02; Vol. 14 (13). Date of Electronic Publication: 2022 Jul 02.

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Weaning practices in phenylketonuria vary between health professionals in Europe.

Autor: Pinto A; Birmingham Women's and Children's Hospital, Birmingham, UK., Adams S; Royal Victoria Infirmary, Newcastle, UK., Ahring K; Department of PKU, Kennedy Centre, Department of Paediatrics and Adolescents Medicine, Copenhagen University Hospital, Glostrup, Denmark., Allen H; Sheffield Children's NHS Foundation Trust, UK., Almeida MF; Centro de Genética Médica, Centro Hospitalar Universitário do Porto (CHP), Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, Porto, Portugal.; Centro de Referência na área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto - CHP, Porto, Portugal., Garcia-Arenas D; Congenital and Metabolic Disease Unit, Gastroenterology, Hepatology and Pediatric Nutrition Unit, Sant Joan de Déu Hospital, Barcelona, Spain., Arslan N; Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmır, Turkey., Assoun M; Hôpital Necker enfants Malades, Centre de référence des maladies héréditaires du métabolisme, Paris, France., Atik Altınok Y; Pediatric Metabolism Department, Ege University Medical Faculty, Izmir, Turkey., Barrio-Carreras D; Servicio de Pediatria, Unidad de Enfermedades Mitocondriales-Metabolicas Hereditarias, Hospital 12 de Octubre, Madrid, Spain., Belanger Quintana A; Servicio de Pediatria, Hospital Ramon y Cajal Madrid, Unidad de Enfermedades Metabolicas, Spain., Bernabei SM; Division of Artificial Nutrition, Children's Hospital Bambino Gesù, Rome, Italy., Bontemps C; CHRU Clocheville Tours, France., Boyle F; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Italy., Bruni G; Meyer Children's hospital, Florence, Italy., Bueno-Delgado M; Children's Hospital Virgen del Rocío, Seville, Spain., Caine G; Mid Yorks NHS Trust, UK., Carvalho R; Hospital Divino Espírito Santo, Ponta Delgada, Portugal., Chrobot A; Children Voievodship Hospital, Bydgoszcz, Poland., Chyż K; Institute of Mother and Child, Warsaw, Poland., Cochrane B; Royal Hospital for Children, Glasgow, UK., Correia C; CHLC- Hospital Dona Estefânia, Lisboa, Portugal., Corthouts K; University hospital Leuven, Belgium., Daly A; Birmingham Women's and Children's Hospital, Birmingham, UK., De Leo S; Department of Human Neuroscience, Sapienza University of Rome - Policlinico Umberto I of Rome, Italy., Desloovere A; University hospital Ghent, Belgium., De Meyer A; Center of Metabolic Diseases, University Hospital, Antwerp, Belgium., De Theux A; IPG (Institut de Pathologie et de Genetique), Charleroi, Belgium., Didycz B; University Children's Hospital, Cracow, Poland., Dijsselhof ME; AMC Amsterdam/Emma Children's Hospital, Netherlands., Dokoupil K; Dr. von Hauner Children's Hospital of the University of Munich, Germany., Drabik J; University Clinical Center in Gdansk, Poland., Dunlop C; Royal Hospital for Children Edinburgh, UK., Eberle-Pelloth W; Universitäts-Kinderklinik Würzburg, Germany., Eftring K; Queen Silivia's Children's Hospital Gothenburg, Sweden., Ekengren J; Queen Silivia's Children's Hospital Gothenburg, Sweden., Errekalde I; Hospital Universitario de Cruces, Vizcaya, Spain., Evans S; Birmingham Women's and Children's Hospital, Birmingham, UK., Foucart A; Cliniques universitaires Saint-Luc, Belgium., Fokkema L; UMC Utrecht Wilhelmina Children's Hospital, Netherlands., François L; centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Robert-Debré, Paris, France., French M; University Hospitals of Leicester NHS Trust, UK., Forssell E; Karolinska University Hospital, Stockholm, Sweden., Gingell C; Nottingham Children's Hospital, UK., Gonçalves C; Hospital Central do Funchal, Portugal., Gökmen Özel H; İhsan Doğramacı Children's Hospital, Hacettepe University, Turkey., Grimsley A; Royal Belfast Hospital for Sick Children, Northern Ireland, UK., Gugelmo G; Department of Pediatrics, Inherited Metabolic Diseases Unit, University Hospital of Verona, Italy., Gyüre E; Albert Szent-Györgyi Clinical Centre, Hungary., Heller C; Kinder- und Jugendklinik Erlangen, Germany., Hensler R; Klinikum Stuttgart Olgahospital, Germany., Jardim I; Centro Hospitalar Lisboa Norte - H. Sta Maria - Unidade de Doenças Metabólicas, Portugal., Joost C; University Children's Hospital, University Medical Center Hamburg Eppendorf, Germany., Jörg-Streller M; Universitätsklinik Innsbruck department für Kinder- und Jugendheilkunde, Austria., Jouault C; CHU, Angers, France., Jung A; Charite, Virchow Klinikum Berlin, Germany., Kanthe M; Skane University Hospital, Sweden., Koç N; Child's Health and Diseases Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara, Turkey., Kok IL; UMC Utrecht Wilhelmina Children's Hospital, Netherlands., Kozanoğlu T; İstanbul University İstanbul Faculty of Medicine, Turkey., Kumru B; Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey., Lang F; University Hospital Mainz, Villa metabolica, Germany., Lang K; Ninewells Hospital, Dundee, Scotland, UK., Liegeois I; CHRU, Hospital D'enfants, Nancy, France., Liguori A; Division of Artificial Nutrition, Children's Hospital Bambino Gesù, Rome, Italy., Lilje R; Oslo University Hospital, Norway., Ļubina O; Children's Clinical University Hospital, Riga, Latvia., Manta-Vogli P; Agia Sophia Childrens' Hospital, Athens, Greece., Mayr D; Universitätsklinik für Jugend und Kinderheilkunde, Müllner Hauptstr, Salzburg, Austria., Meneses C; Hospital de Santo Espírito da Ilha Terceira, EPER, Portugal., Newby C; Bristol Royal Hospital for Children, UK., Meyer U; Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Medical School Hannover, Germany., Mexia S; Centro Hospitalar Lisboa Norte - H. Sta Maria - Unidade de Doenças Metabólicas, Portugal., Nicol C; Royal Victoria Infirmary, Newcastle, UK., Och U; Metabolic Department, University Hospital Muenster, Center for Pediatrics, Germany., Olivas SM; Congenital and Metabolic Disease Unit, Gastroenterology, Hepatology and Pediatric Nutrition Unit, Sant Joan de Déu Hospital, Barcelona, Spain., Pedrón-Giner C; Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Pereira R; Norfolk & Norwich hospital, UK., Plutowska-Hoffmann K; The Independent Public Clinical Hospital, Medical University of Silesia in Katowice John Paul II Upper Silesian Child Health Centre, Poland., Purves J; Royal Hospital for Children Edinburgh, UK., Re Dionigi A; Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Italy., Reinson K; Tartu University Hospital, United Laboratories, Department of Genetics, Italy., Robert M; Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium., Robertson L; Royal Hospital for Children Edinburgh, UK., Rocha JC; Centro de Genética Médica, Centro Hospitalar Universitário do Porto (CHP), Porto, Portugal.; Centro de Referência na área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto - CHP, Porto, Portugal.; Centre for Health Technology and Services Research (CINTESIS), Portugal., Rohde C; Hospital for Children and Adolescents, Department of Women and Child Health, University Hospitals, University of Leipzig, Germany., Rosenbaum-Fabian S; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Rossi A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Woman's and Child's Health, University Hospital of Padua, Italy., Ruiz M; Hospital Universitario Nuestra Señora de Candelaria, Tenerife, Spain., Saligova J; Children's Faculty Hospital, Kosice, Slovakia., Gutiérrez-Sánchez A; Congenital and Metabolic Disease Unit, Gastroenterology, Hepatology and Pediatric Nutrition Unit, Sant Joan de Déu Hospital, Barcelona, Spain., Schlune A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany., Schulpis K; Agia Sophia Childrens' Hospital, Athens, Greece., Serrano-Nieto J; HRU, Málaga, Spain., Skarpalezou A; Institute of Child Health, 'A. Sophia' Children's Hospital, Athens., Skeath R; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Slabbert A; Evelina Children's Hospital, Guy's & St. Thomas' NHS Foundation Trust, London, UK., Straczek K; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age Pomeranian Medica University, Poland., Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age Pomeranian Medica University, Poland., Terry A; Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Thom R; Royal Belfast Hospital for Sick Children, Northern Ireland, UK., Tooke A; Nottingham Children's Hospital, UK., Tuokkola J; Clinical Nutrition Unit, Internal Medicine and Rehabilitation and Pediatric Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., van Dam E; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Dietetics, Groningen, the Netherlands., van den Hurk TAM; UMC Utrecht Wilhelmina Children's Hospital, Netherlands., van der Ploeg EMC; Maastricht University Medical Centre, Maastricht, Netherlands., Vande Kerckhove K; University hospital Leuven, Belgium., Van Driessche M; University hospital Ghent, Belgium., van Wegberg AMJ; Department of Gastroenterology and Hepatology - Dietetics, Radboud University Medical Centre, Nijmegen, Netherlands., van Wyk K; Manchester University NHS Foundation Trust, UK., Vasconcelos C; Centro Hospitalar São João, Porto, Portugal., Velez García V; Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain., Wildgoose J; Bradford Teaching Hospitals St Lukes, UK., Winkler T; Klinik für Kinder- und Jugendmedizin, Carl-Thiem-Klinikum gGmbH Cottbus, Germany., Żółkowska J; Institute of Mother and Child, Warsaw, Poland., Zuvadelli J; Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Italy., MacDonald A; Birmingham Women's and Children's Hospital, Birmingham, UK.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2018 Nov 25; Vol. 18, pp. 39-44. Date of Electronic Publication: 2018 Nov 25 (Print Publication: 2019).

Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature.

Autor: Arhip, Loredana^1,2 (AUTHOR) loredanarhip@gmail.com, Agreda, Javier¹ (AUTHOR), Serrano-Moreno, Clara^1,2 (AUTHOR), Motilla, Marta^1,2 (AUTHOR), Carrascal, M.ª Luisa^1,2 (AUTHOR), Bielza, Atocha^1,2 (AUTHOR), Velasco, Cristina^1,2 (AUTHOR), Camblor, Miguel^1,2 (AUTHOR), Bretón, Irene^1,2 (AUTHOR), Cuerda, Cristina^1,2,3 (AUTHOR)

Publikováno v: Nutrición Hospitalaria. Mar/Apr2024, Vol. 41 Issue 2, p489-509. 21p.

Genome-wide identification and analysis of TMT-based proteomes in longissimus dorsi tissue from Kazakh cattle and Xinjiang brown cattle.

Autor: Ma, Zhen¹ (AUTHOR), Yan, Xiang-Min¹ (AUTHOR), Geng, Juan² (AUTHOR), Gao, Liang³ (AUTHOR), Du, Wei¹ (AUTHOR), Li, Hong-Bo¹ (AUTHOR), Yuan, Li-Xing¹ (AUTHOR), Zhou, Zhen-Yong¹ (AUTHOR), Zhang, Jin-Shan¹ (AUTHOR), Zhang, Yang¹ (AUTHOR), Chen, Lei⁴ (AUTHOR)

Publikováno v: Animal Biotechnology. 2023, Vol. 34 Issue 4, p1261-1272. 12p.