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Paper Details

Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants.
HGG Adv
1
2023
Fabry disease, IMD, IMD genes, IMDs, Inherited metabolic disorders, PLPV, PLPVs, attenuated disease, hyperammonemia, migraines, ornithine, ornithine transcarbamylase, ornithine transcarbamylase deficiency, participants, stroke
Author NameAffiliation
Theodore G DrivasPerelman School of Medicine at the University of Pennsylvania
Amel KaraaMassachusetts General Hospital for Children
Amel KaraaHarvard Medical School
Daniel J RaderPerelman School of Medicine at the University of Pennsylvania
Daniel J RaderPerelman School of Medicine, University of Pennsylvania
Daniel J RaderPerelman School of Medicine at the University of Pennsylvania
Robert C GreenHarvard Medical School
Robert C GreenBrigham and Women's Hospital
Robert C GreenBroad Institute
Robert C Green
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