Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision-Reference-Cited by-同舟云学术

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Published:2019-05-15 Issue:6 Volume:42 Page:1192-1230
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Häberle Johannes¹^ORCID,Burlina Alberto²,Chakrapani Anupam³,Dixon Marjorie⁴,Karall Daniela⁵,Lindner Martin⁶,Mandel Hanna⁷,Martinelli Diego⁸,Pintos‐Morell Guillem⁹¹⁰¹¹,Santer René¹²,Skouma Anastasia¹³,Servais Aude¹⁴,Tal Galit¹⁵,Rubio Vicente¹⁶,Huemer Martina¹¹⁷,Dionisi‐Vici Carlo⁸

Affiliation:

1. University Children's Hospital Zurich and Children's Research Centre Zurich Switzerland

2. Division of Inborn Metabolic Disease, Department of Pediatrics University Hospital Padua Padova Italy

3. Department of Metabolic Medicine Great Ormond Street Hospital for Children NHS Foundation Trust London UK

4. Dietetics, Great Ormond Street Hospital for Children NHS Trust London UK

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

6. University Children's Hospital Frankfurt am Main Germany

7. Institute of Human Genetics and metabolic disorders Western Galilee Medical Center Nahariya Israel

8. Division of Metabolism Bambino Gesù Children's Hospital Rome Italy

9. Centre for Rare Diseases University Hospital Vall d'Hebron Barcelona Spain

10. CIBERER_GCV08, Research Institute IGTP Barcelona Spain

11. Universitat Autònoma de Barcelona Barcelona Spain

12. Department of Pediatrics University Medical Center Hamburg‐Eppendorf Hamburg Germany

13. Institute of Child Health Agia Sofia Children's Hospital Athens Greece

14. Service de Néphrologie et maladies métaboliques adulte Hôpital Necker 149 Paris France

15. The Ruth Rappaport Children's Hospital Rambam Medical Center Haifa Israel

16. Instituto de Biomedicina de Valencia (IBV‐CSIC) Centro de Investigación Biomédica en Red para Enfermedades Raras (CIBERER) Valencia Spain

17. Department of Paediatrics Landeskrankenhaus Bregenz Bregenz Austria

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12100

Reference344 articles.

2. Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

3. The incidence of urea cycle disorders

4. Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines

5. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation

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