Biallelic Loss‐Of‐Function Variant in <scp> <i>ATP5ME</i> </scp> Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency

Pranavi Hegde, Aakanksha Anand, Rita Rani, Namanpreet Kaur, Ami Shah, Shilpa Kulkarni, Janani Supraja Mallavaram, Raghavender Medishetti, Amoolya Kandettu, Huzail Shaikh, Shahyan Siddiqui, Purvi Majethia, Vivekananda Bhat, Periyasamy Radhakrishnan, Aarti Sevilimedu, Sanjiban Chakrabarty, Anju Shukla

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DOI: 10.1002/jimd.70222
Published: 2026-07
Container: Journal of Inherited Metabolic Disease
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/jimd.70222,
  title = {Biallelic Loss‐Of‐Function Variant in
                    <scp>
                      <i>ATP5ME</i>
                    </scp>
                    Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency},
  author = {Pranavi Hegde and Aakanksha Anand and Rita Rani and Namanpreet Kaur and Ami Shah and Shilpa Kulkarni and Janani Supraja Mallavaram and Raghavender Medishetti and Amoolya Kandettu and Huzail Shaikh and Shahyan Siddiqui and Purvi Majethia and Vivekananda Bhat and Periyasamy Radhakrishnan and Aarti Sevilimedu and Sanjiban Chakrabarty and Anju Shukla},
  year = {2026},
  journal = {Journal of Inherited Metabolic Disease},
  doi = {10.1002/jimd.70222},
  url = {https://doi.org/10.1002/jimd.70222}
}

RIS

TY  - JOUR
TI  - Biallelic Loss‐Of‐Function Variant in
                    <scp>
                      <i>ATP5ME</i>
                    </scp>
                    Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency
AU  - Pranavi Hegde
AU  - Aakanksha Anand
AU  - Rita Rani
AU  - Namanpreet Kaur
AU  - Ami Shah
AU  - Shilpa Kulkarni
AU  - Janani Supraja Mallavaram
AU  - Raghavender Medishetti
AU  - Amoolya Kandettu
AU  - Huzail Shaikh
AU  - Shahyan Siddiqui
AU  - Purvi Majethia
AU  - Vivekananda Bhat
AU  - Periyasamy Radhakrishnan
AU  - Aarti Sevilimedu
AU  - Sanjiban Chakrabarty
AU  - Anju Shukla
PY  - 2026
JO  - Journal of Inherited Metabolic Disease
DO  - 10.1002/jimd.70222
UR  - https://doi.org/10.1002/jimd.70222
ER  -

APA

Hegde, P., Anand, A., Rani, R., Kaur, N., Shah, A., Kulkarni, S., Mallavaram, J. S., Medishetti, R., Kandettu, A., Shaikh, H., Siddiqui, S., Majethia, P., Bhat, V., Radhakrishnan, P., Sevilimedu, A., Chakrabarty, S., & Shukla, A. (2026). Biallelic Loss‐Of‐Function Variant in <scp> <i>ATP5ME</i> </scp> Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.70222

Source records

crossref · retrieved 2026-09-25T07:32:37.837Z