1-2 of 2
aminoaciduria
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Platelet Functional and Morphological Abnormalities In a Case Of Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome With a Novel Genetic Profile

Lesleigh S Abbott, MD, Ling Li, MD, Hilary Christensen, Fred Pluthero, PhD, Denisa Urban, Yigal Dror, MD, Walter H. Kahr, MD, PhD
Journal: Blood
Blood (2013) 122 (21): 3538.
https://doi.org/10.1182/blood.V122.21.3538.3538
Published: 2013
Journal Articles

A missense mutation in the heavy subunit of γ-glutamylcysteine synthetase gene causes hemolytic anemia

Ellinor Ristoff, Camilla Augustson, Judy Geissler, Thea de Rijk, Katarina Carlsson, Jia-Li Luo, Kerstin Andersson, Ron S. Weening, Rob van Zwieten, Agne Larsson, Dirk Roos
Journal: Blood
Blood (2000) 95 (7): 2193–2196.
https://doi.org/10.1182/blood.V95.7.2193
Published: 2000