Eric Rush
0000-0002-8147-7315
University of Nebraska Medical Center
7 papers found
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Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype
Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?
Atypical presentation of mucopolysaccharidosis type IVA
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders
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