Early prediction of phenotypic severity in Citrullinemia Type 1-Reference-Cited by-同舟云学术

Early prediction of phenotypic severity in Citrullinemia Type 1

Published:2019-08-30 Issue:9 Volume:6 Page:1858-1871
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Zielonka Matthias¹²^ORCID,Kölker Stefan¹,Gleich Florian¹,Stützenberger Nicolas¹,Nagamani Sandesh C. S.³,Gropman Andrea L.⁴,Hoffmann Georg F.¹,Garbade Sven F.¹,Posset Roland¹^ORCID,Sarajlija Adrijan,Skouma Anastasia,Schulze Andreas,Garcia‐Cazorla Angeles,Lund AM,Jalan Anil,Morris Andrew,Dionisi‐Vici Carlo,De Laet Corinne,Leão Teles Elisa,Diaz GA,Berry GT,Payan‐Walters Irma,Blasco‐Alonso Javier,Seminara Jennifer,Bedoyan Jirair K.,Merritt J. Lawrence,Burrage Lindsay C.,Yudkoff Marc,Schiff Manuel,Baumgartner Matthias R.,Ah Mew Nicholas,Himmelreich Nastassja,Freisinger Peter,van Hasselt Peter M.,Vara Roshni,Berry Susan A.,Hollander Suzanne,

Affiliation:

1. Center for Pediatric and Adolescent Medicine Division of Pediatric Neurology and Metabolic Medicine University Hospital Heidelberg Im Neuenheimer Feld 430 69120Heidelberg Germany

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

3. Department of Molecular and Human Genetics Baylor College of Medicine Texas Children's Hospital Houston Texas

4. Children's National Health System The George Washington School of Medicine District of Columbia Washington

Funder

National Institutes of Health

National Institute of Child Health and Human Development

Kettering Fund

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50886

Reference32 articles.

1. The incidence of urea cycle disorders

2. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

3. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

4. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

5. Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years

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