Publications by authors named "G Angel"

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Revisiting the Genetics of Hypophosphatasia.
Priya S Kishnani, Catherine Rehder, Keiichi Ozono, Jordi Pérez-López, Guillermo Del Angel

J Inherit Metab Dis· November 2025

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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.
Rodrigo Montero-Lopez, Mariam R Farman, Florian Högler, Catherine Rehder, Theodora Malli, Guillermo Del Angel

J Bone Miner Res· September 2025

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Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Jenifer S Calvo, Tomáš Heger, Ekaterina Kabin, William R Mowrey, Guillermo Del Angel

Hum Mutat· July 2025

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The ALPL gene variant project: results of the first 100 reclassified variants.
Mariam R Farman, Theodora Malli, Catherine Rehder, Gerald Webersinke, Cheryl Rockman-Greenberg, Guillermo Del Angel

JBMR Plus· June 2025

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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Thomas P Spargo, Chloe F Sands, Isabella R Juan, Jonathan Mitchell, Vida Ravanmehr, Guillermo Del Angel

Cell Rep· March 2025

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