From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

Author:

Zielonka Matthias12ORCID,Garbade Sven F.1,Gleich Florian1,Okun Jürgen G.1,Nagamani Sandesh C. S.3,Gropman Andrea L.4,Hoffmann Georg F.1,Kölker Stefan1,Posset Roland1ORCID,Ah Mew Nicholas5,Burrage Lindsay C.6,Schulze Andreas7,Berry Susan A.8,Baumgartner Matthias R.9,Diaz George A.10,Merritt J. Lawrence11,Bedoyan Jirair K.12,Wong Derek13,Harding Cary O.14,Yudkoff Marc15,Garcia‐Cazorla Angeles16,Cortès‐Saladelafont Elisenda16,Lund Allan M.17,Dionisi‐Vici Carlo18,Burlina Alberto B.19,Morris Andrew A.20,Freisinger Peter21,Walter Magdalena E.22,Jalan Anil23,Schiff Manuel24,Dobbelaere Dries25,Bosch Annet M.26,Ioannou Harikleia27,Barić Ivo28,

Affiliation:

1. Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent MedicineUniversity Hospital HeidelbergHeidelberg Germany

2. Heidelberg Research Center for Molecular Medicine (HRCMM)Heidelberg Germany

3. Department of Molecular and Human GeneticsBaylor College of Medicine and Texas Children's HospitalHouston Texas

4. Division of Neurodevelopmental Pediatrics and NeurogeneticsChildren's National Health System and The George Washington School of MedicineWashington District of Columbia

5. Children's National Health SystemWashington DC USA

6. Department of Molecular and Human GeneticsBaylor College of Medicine and Texas Children's HospitalHouston Texas USA

7. The Hospital for Sick Children and University of TorontoToronto Ontario Canada

8. University of MinnesotaMinneapolis Minnesota USA

9. University Children's Hospital Zurich and Children's Research CenterZurich Switzerland

10. Mount Sinai School of Medicine, Department of Genetics and Genomics SciencesNew York NY USA

11. University of Washington and Seattle Children's HospitalSeattle Washington USA

12. Center for Human Genetics and Department of Genetics and Genome SciencesUniversity Hospitals Cleveland Medical Center and Case Western Reserve UniversityCleveland Ohio USA

13. David Geffen School of Medicine at UCLALos Angeles California USA

14. Oregon Health and Science UniversityPortland Oregon USA

15. University of Pennsylvania School of Medicine and Children's Hospital of PhiladelphiaPhiladelphia Pennsylvania USA

16. Hospital San Joan de Deu, Institut Pediàtric de RecercaServicio de Neurologia and CIBERER, ISCIIIBarcelona Spain

17. Centre Inherited Metabolic Diseases, Departments of Paediatrics and Clinical GeneticsCopenhagen University HospitalRigshospitalet Copenhagen Denmark

18. Ospedale Pediatrico Bambino GesúU.O.C. Patologia MetabolicaRome Italy

19. Division of Inherited Metabolic Diseases Reference Centre Expanded Newborn Screening Department of Woman's and Child's Health University Hospital PadovaItaly

20. Manchester University Hospitals NHS Foundation Trust and Manchester Academic Health Sciences Centre, Willink Metabolic Unit, Genomic MedicineSt Mary's HospitalManchester United Kingdom

21. Klinik für Kinder‐ und JugendmedizinKlinikum am SteinenbergReutlingen Germany

22. Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic MedicineUniversity Hospital HeidelbergIm Neuenheimer Feld 430 69120 Heidelberg Germany

23. NIRMAN, Biochemical GeneticsOm Rachana SocietyMumbai India

24. Robert‐Debré University HospitalReference Center for Inborn Errors of MetabolismParis France

25. Centre de Référence Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Jeanne de Flandre Hospital, CHRU Lille, and RADEME EA 7364, Faculty of MedicineUniversity Lille 2Lille 59037 France

26. Department of Pediatrics, Division of Metabolic DisordersEmma Children's HospitalAmsterdam Netherlands

27. 1st Pediatric DepartmentMetabolic Laboratory, General Hospital of Thessaloniki ‘Hippocration’Thessaloniki Greece

28. University Hospital Center Zagreb and University of ZagrebSchool of MedicineZagreb Croatia

Funder

Deutsche Forschungsgemeinschaft

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Kettering Fund

National Institutes of Health

Baylor College of Medicine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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