Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in <scp>TMEM70</scp> and <scp>MT</scp> ‐ <scp>ATP6</scp> ‐Related Mitochondrial <scp>ATP</scp> Synthase Defects

Barbara Siri, Diego Martinelli, Rosalba Carrozzo, Sara Boenzi, Sara Cairoli, Cristiano Rizzo, Teresa Giovanniello, Johannes Häberle, Carlo Dionisi‐Vici

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DOI: 10.1002/jimd.70244
Published: 2026-09
Container: Journal of Inherited Metabolic Disease
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/jimd.70244,
  title = {Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in
                    <scp>TMEM70</scp>
                    and
                    <scp>MT</scp>
                    ‐
                    <scp>ATP6</scp>
                    ‐Related Mitochondrial
                    <scp>ATP</scp>
                    Synthase Defects},
  author = {Barbara Siri and Diego Martinelli and Rosalba Carrozzo and Sara Boenzi and Sara Cairoli and Cristiano Rizzo and Teresa Giovanniello and Johannes Häberle and Carlo Dionisi‐Vici},
  year = {2026},
  journal = {Journal of Inherited Metabolic Disease},
  doi = {10.1002/jimd.70244},
  url = {https://doi.org/10.1002/jimd.70244}
}

RIS

TY  - JOUR
TI  - Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in
                    <scp>TMEM70</scp>
                    and
                    <scp>MT</scp>
                    ‐
                    <scp>ATP6</scp>
                    ‐Related Mitochondrial
                    <scp>ATP</scp>
                    Synthase Defects
AU  - Barbara Siri
AU  - Diego Martinelli
AU  - Rosalba Carrozzo
AU  - Sara Boenzi
AU  - Sara Cairoli
AU  - Cristiano Rizzo
AU  - Teresa Giovanniello
AU  - Johannes Häberle
AU  - Carlo Dionisi‐Vici
PY  - 2026
JO  - Journal of Inherited Metabolic Disease
DO  - 10.1002/jimd.70244
UR  - https://doi.org/10.1002/jimd.70244
ER  -

APA

Siri, B., Martinelli, D., Carrozzo, R., Boenzi, S., Cairoli, S., Rizzo, C., Giovanniello, T., Häberle, J., & Dionisi‐Vici, C. (2026). Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in <scp>TMEM70</scp> and <scp>MT</scp> ‐ <scp>ATP6</scp> ‐Related Mitochondrial <scp>ATP</scp> Synthase Defects. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.70244

Source records

crossref · retrieved 2026-09-25T03:39:08.716Z