Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry-Reference-Cited by-同舟云学术

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Published:2019-02-27 Issue:6 Volume:42 Page:1162-1175
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Molema Femke¹,Gleich Florian²,Burgard Peter²,Ploeg Ans T.¹,Summar Marshall L.³,Chapman Kimberly A.³,Barić Ivo⁴,Lund Allan M.⁵,Kölker Stefan²,Williams Monique¹^ORCID,Hörster F.⁶,Jelsig A.M.⁷,Lonlay P.⁸,Wijburg F.A.⁹,Bosch A.⁹,Freisinger P.¹⁰,Posset R.⁶,Augoustides‐Savvopoulou P.¹¹,Avram P.¹²,Deleanu C.¹²,Baumgartner M.R.¹³,Häberle J.¹³,Blasco‐Alonso J.¹⁴,Burlina A.B.¹⁵,Rubert L.¹⁵,Cazorla A. Garcia¹⁶,Saladelafont E. Cortes i¹⁶,Dionisi‐Vici C.¹⁷,Martinelli D.¹⁷,Dobbelaere D.¹⁸,Mention K.¹⁸,Grünewald S.¹⁹,Chakrapani A.¹⁹²⁰,Hwu Wuh‐Liang²¹,Chien Yin‐Hsiu²¹,Lee Ni‐Chung²¹,Karall D.²²,Scholl‐Bürgi S.²²,Lachmann R.²³,De Laet C.²⁴,Matsumoto S.²⁵,Meirleir L.²⁶,Mühlhausen C.²⁷,Schiff M.²⁸,Peña‐Quintana L.²⁹,Djordjevic M.³⁰,Sarajlija A.³⁰,Sykut‐Cegielska J.³¹,Wisniewska A.³¹,Leao‐Teles E.³²,Alves S.³²,Vara R.³³,Vives‐Pinera I.³⁴,Ortega D.G.³⁴,Morris A.³⁵,Zeman J.³⁶,Honzik T.³⁶,Chabrol B.³⁷,Arnaudo F.³⁷,Cano A.³⁷,Thompson N.²⁰³⁸,Eyskens F.³⁹,Lindner M.⁴⁰,Lüsebrink N.⁴⁰,Jalan A.⁴¹,Sokal E.⁴²,Legros V.⁴²,Nassogne M.C.⁴²,

Affiliation:

1. Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam The Netherlands

2. Division of Neuropaediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany

3. Department of Genetics and Metabolism, Children's National Medical Center Washington District of Columbia

4. Department of Pediatrics University Hospital Center Zagreb and University of Zagreb, School of Medicine Zagreb Croatia

5. Departments of Paediatrics and Clinical Genetics, Centre for Inherited Metabolic Diseases Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark

6. Centre for Child and Adolescent Medicine, Divison of Neuropaediatrics and Metabolic Medicine University Hospital Heidelberg Heidelberg Germany

7. Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics Copenhagen University Hospital Copenhagen Denmark

8. Assistance Publique‐Hôpitaux de Paris, Centre de Référence de Maladies Métaboliques (MaMEA) Hôpital Universitaire Necker‐Enfants Malades and Insitut MAGINE Paris France

9. Department of Pediatrics Academic Medical Center Amsterdam the Netherlands

10. Klinikum am Steinenberg Klinik für Kinder‐ und Jugendmedizin Reutlingen Germany

11. Metabolic Laboratory, General Hospital of Thessaloniki ‘Hippocration’ University 1st Pediatric Department Thessaloniki Greece

12. Institute of Mother and Child Care Alfred Rusescu Bucharest Romania

13. Division of Metabolism and Children's Research Centre University Children's Hospital Zurich Zurich Switzerland

14. Hospital Materno‐Infantil (HRU Carlos Haya) Málaga Spain

15. U.O.C. Malattie Metaboliche Ereditarie Azienda Ospedaliera di Padova Padova Italy

16. Servicio de Neurologia and CIBERER, Hospital San Joan de Deu, ISCIII Barcelona Spain

17. U.O.C. Patologia Metabolica Ospedale Pediatrico Bambino Gésu Rome Italy

18. Medical Reference Center for Inherited Metabolic Diseases Jeanne de Flandre University Hospital and RADEME Research Team for Rare Metabolic and Developmental Diseases EA Lille France

19. Metabolic Unit, Great Ormond Street Hospital and Institute for Child Health University College London London UK

20. Birmingham Children's Hospital NHS Foundation Trust Birmingham UK

21. Department of Medical Genetics National Taiwan University Hospital Taipei City Taiwan

22. Clinic for Pediatrics, Inherited Metabolic Disorders Medical University of Innsbruck Innsbruck Austria

23. Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery London UK

24. Hôpital Universitaire des Enfants Reine Fabiola Bruxelles Belgium

25. Department of Pediatrics Kumamoto University Hospital Kumamoto City Japan

26. University Hospital Vrije Universiteit Brussel Bruxelles Belgium

27. Klinik für Kinder‐ und Jugendmedizin Universitätsklinikum Hamburg‐Eppendorf Hamburg Germany

28. Reference Center for Inborn Errors of Metabolism, APHP University Paris‐Diderot and INSERM U1141, Robert‐Debré Hospital Paris France

29. Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Las Palmas de Gran Canaria, CIBER OBN University of Las Palmas de Gran Canaria, Hospital Universitario Materno‐Infantil de Canarias Las Palmas Spain

30. Institut za zdravstvenu zaštitu majke i deteta Srbije Belgrade Republic of Serbia

31. Department of Inborn Errors of Metabolism and Paediatrics Institute of Mother and Child Warsaw Poland

32. Unidade de Doenças Metabólicas, Serviço de Pediatria Hospital de S. João, EPE Porto Portugal

33. Evelina Children's Hospital St Thomas' Hospital London UK

34. Inborn Metabolic Disease Unit Hospital Virgen de la Arrixaca de Murcia El Palmar Spain

35. Willink Biochemical Genetics Unit, Genetic Medicine, Manchester Academic Health Science Centre University of Manchester Manchester UK

36. Department of Paediatrics, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

37. Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants CHU Timone Marseilles France

38. Bradford Teaching Hospitals NHS Trust St Luke's Hospital Bradford UK

39. Universitair Ziekenhuis Antwerpen (UZA) Antwerpen Belgium

40. Klinik für Kinder und Jugendmedizin Universitätsklinikum Frankfurt Frankfurt Germany

41. N.I.R.M.A.N. Mumbai India

42. Cliniques Universitaires St Luc Université Catholique de Louvain Bruxelles Belgium

Funder

Erasmus Universitair Medisch Centrum Rotterdam

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12066

Reference33 articles.

1. Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

2. The incidence of urea cycle disorders

3. The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism

4. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

5. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

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