Genetics in Medicine Open (Jan 2024)
P007: PP4 criteria specifications for proximal urea cycle disorders*
- Kara Simpson,
- Nicholas Ah Mew,
- Ljubica Caldovic,
- Annette Feigenbaum,
- Raquel Fernandez,
- Emily Groopman,
- Andrea Gropman,
- Emily Kudalkar,
- Uta Lichter-Konecki,
- McKenna Kyriss,
- Elaine Spector,
- Meredith Weaver,
- Manya Warrier,
- Diane Zastrow,
- Amanda Thomas-Wilson
Affiliations
- Kara Simpson
- Children's National Hospital
- Nicholas Ah Mew
- Children's National Hospital
- Ljubica Caldovic
- Children's National Hospital, Department of Genomics and Precision Medicine, The George Washington University School of Medicine and Health Sciences
- Annette Feigenbaum
- University of California San Diego
- Raquel Fernandez
- American College of Medical Genetics and Genomics
- Emily Groopman
- Children's National Hospital
- Andrea Gropman
- Children's National Hospital
- Emily Kudalkar
- Ambry Genetics
- Uta Lichter-Konecki
- UPMC Children's Hospital of Pittsburgh
- McKenna Kyriss
- Prevention Genetics
- Elaine Spector
- University of Colorado, Anschutz Medical School
- Meredith Weaver
- American College of Medical Genetics and Genomics
- Manya Warrier
- Invitae
- Diane Zastrow
- Invitae
- Amanda Thomas-Wilson
- New York Genome Center
- Journal volume & issue
-
Vol. 2
p. 100884