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Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine

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Goldstein, J; Bali, D; Balog, A; Reeves, EB; Demirbas, D; Fernandez, R; Giliberto, F; Groopman, E; Hung, C; Lacaria, M; Mao, R; Mohan, S ...
Published in: Molecular Genetics and Metabolism
May 2026

Duke Scholars

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Published In

Molecular Genetics and Metabolism

DOI

ISSN

1096-7192

Publication Date

May 2026

Volume

148

Issue

1

Start / End Page

109921 / 109921

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
 

Citation

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Goldstein, J., Bali, D., Balog, A., Reeves, E. B., Demirbas, D., Fernandez, R., … Clarke, L. (2026). Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine. In Molecular Genetics and Metabolism (Vol. 148, pp. 109921–109921). Elsevier BV. https://doi.org/10.1016/j.ymgme.2026.109921
Goldstein, Jennifer, Deeksha Bali, Amanda Balog, Emily Brown Reeves, Didem Demirbas, Raquel Fernandez, Florencia Giliberto, et al. “Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine.” In Molecular Genetics and Metabolism, 148:109921–109921. Elsevier BV, 2026. https://doi.org/10.1016/j.ymgme.2026.109921.
Goldstein J, Bali D, Balog A, Reeves EB, Demirbas D, Fernandez R, et al. Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine. In: Molecular Genetics and Metabolism. Elsevier BV; 2026. p. 109921–109921.
Goldstein, Jennifer, et al. “Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine.” Molecular Genetics and Metabolism, vol. 148, no. 1, Elsevier BV, 2026, pp. 109921–109921. Crossref, doi:10.1016/j.ymgme.2026.109921.
Goldstein J, Bali D, Balog A, Reeves EB, Demirbas D, Fernandez R, Giliberto F, Groopman E, Hung C, Lacaria M, Mao R, Mohan S, Peck D, Pinto e Vairo F, Pollard L, Rehder C, Savatt J, Schmidt R, St. Clair P, Weaver M, White A, Wood TC, Clarke L. Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine. Molecular Genetics and Metabolism. Elsevier BV; 2026. p. 109921–109921.
Journal cover image

Published In

Molecular Genetics and Metabolism

DOI

ISSN

1096-7192

Publication Date

May 2026

Volume

148

Issue

1

Start / End Page

109921 / 109921

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics