Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management

Hayley Nehoff, Ian Crozier, Hilary Vernon, Christine James, Ana I. Fernández-Ávila, Michael Bowes, Esther Gomez-Gonzalez, Colin Phoon, Kristy DiLoreto, Martin E. Matsumura, Désirée Y. van Haaften-Visser, Cameron Seaman, Matthew R. Edwards, Deborah J. Morris-Rosendahl, Kathleen Simonetti, Alyssa L. Rippert, Rebecca C. Ahrens-Nicklas, Cassandra Tormey, Emily Bogush, Aaina Kochhar, Johan L.K. Van Hove, Alicia M. Kamsheh, Bridget A. Leone, Saskia B. Wortmann, Robert G. Weintraub, W. Reid Thompson, Eric S. Silver, Warren A. Zuckerman, John Pearson, Jan Till, Kathryn Chatfield, Amy Goldstein, Robert McFarland, Johannes A. Mayr, Kit Doudney

Open source

DOI: 10.1161/circgen.125.005673
Published: 2026-10
Container: Circulation: Genomic and Precision Medicine
Publisher: Ovid Technologies (Wolters Kluwer Health)
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1161/circgen.125.005673,
  title = {Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management},
  author = {Hayley Nehoff and Ian Crozier and Hilary Vernon and Christine James and Ana I. Fernández-Ávila and Michael Bowes and Esther Gomez-Gonzalez and Colin Phoon and Kristy DiLoreto and Martin E. Matsumura and Désirée Y. van Haaften-Visser and Cameron Seaman and Matthew R. Edwards and Deborah J. Morris-Rosendahl and Kathleen Simonetti and Alyssa L. Rippert and Rebecca C. Ahrens-Nicklas and Cassandra Tormey and Emily Bogush and Aaina Kochhar and Johan L.K. Van Hove and Alicia M. Kamsheh and Bridget A. Leone and Saskia B. Wortmann and Robert G. Weintraub and W. Reid Thompson and Eric S. Silver and Warren A. Zuckerman and John Pearson and Jan Till and Kathryn Chatfield and Amy Goldstein and Robert McFarland and Johannes A. Mayr and Kit Doudney},
  year = {2026},
  journal = {Circulation: Genomic and Precision Medicine},
  doi = {10.1161/circgen.125.005673},
  url = {https://doi.org/10.1161/circgen.125.005673}
}

RIS

TY  - JOUR
TI  - Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management
AU  - Hayley Nehoff
AU  - Ian Crozier
AU  - Hilary Vernon
AU  - Christine James
AU  - Ana I. Fernández-Ávila
AU  - Michael Bowes
AU  - Esther Gomez-Gonzalez
AU  - Colin Phoon
AU  - Kristy DiLoreto
AU  - Martin E. Matsumura
AU  - Désirée Y. van Haaften-Visser
AU  - Cameron Seaman
AU  - Matthew R. Edwards
AU  - Deborah J. Morris-Rosendahl
AU  - Kathleen Simonetti
AU  - Alyssa L. Rippert
AU  - Rebecca C. Ahrens-Nicklas
AU  - Cassandra Tormey
AU  - Emily Bogush
AU  - Aaina Kochhar
AU  - Johan L.K. Van Hove
AU  - Alicia M. Kamsheh
AU  - Bridget A. Leone
AU  - Saskia B. Wortmann
AU  - Robert G. Weintraub
AU  - W. Reid Thompson
AU  - Eric S. Silver
AU  - Warren A. Zuckerman
AU  - John Pearson
AU  - Jan Till
AU  - Kathryn Chatfield
AU  - Amy Goldstein
AU  - Robert McFarland
AU  - Johannes A. Mayr
AU  - Kit Doudney
PY  - 2026
JO  - Circulation: Genomic and Precision Medicine
DO  - 10.1161/circgen.125.005673
UR  - https://doi.org/10.1161/circgen.125.005673
ER  -

APA

Nehoff, H., Crozier, I., Vernon, H., James, C., Fernández-Ávila, A. I., Bowes, M., Gomez-Gonzalez, E., Phoon, C., DiLoreto, K., Matsumura, M. E., Haaften-Visser, D. Y. V., Seaman, C., Edwards, M. R., Morris-Rosendahl, D. J., Simonetti, K., Rippert, A. L., Ahrens-Nicklas, R. C., Tormey, C., Bogush, E., Kochhar, A., Hove, J. L. V., Kamsheh, A. M., Leone, B. A., Wortmann, S. B., Weintraub, R. G., Thompson, W. R., Silver, E. S., Zuckerman, W. A., Pearson, J., Till, J., Chatfield, K., Goldstein, A., McFarland, R., Mayr, J. A., & Doudney, K. (2026). Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management. Circulation: Genomic and Precision Medicine. https://doi.org/10.1161/circgen.125.005673

Source records

crossref · retrieved 2026-11-07T12:01:23.344Z