Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.

Cabezas L, Mul A, Derain L, Pszczolinski R, Castrale C, Letavernier E, Mesnard L, Guerrot D, Allard L, Boyer O, Rabah MO, Vrillion I, Nobili F, Zaloszyc A, Acquaviva C, Bacchetta J, Lemoine S

Open source

DOI
10.1186/s13023-026-04463-7
Published
2026 Jul 4
Container
Orphanet journal of rare diseases
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1186/s13023-026-04463-7,
  title = {Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.},
  author = {Cabezas L and Mul A and Derain L and Pszczolinski R and Castrale C and Letavernier E and Mesnard L and Guerrot D and Allard L and Boyer O and Rabah MO and Vrillion I and Nobili F and Zaloszyc A and Acquaviva C and Bacchetta J and Lemoine S},
  year = {2026},
  journal = {Orphanet journal of rare diseases},
  doi = {10.1186/s13023-026-04463-7},
  url = {https://doi.org/10.1186/s13023-026-04463-7}
}

RIS

TY  - JOUR
TI  - Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.
AU  - Cabezas L
AU  - Mul A
AU  - Derain L
AU  - Pszczolinski R
AU  - Castrale C
AU  - Letavernier E
AU  - Mesnard L
AU  - Guerrot D
AU  - Allard L
AU  - Boyer O
AU  - Rabah MO
AU  - Vrillion I
AU  - Nobili F
AU  - Zaloszyc A
AU  - Acquaviva C
AU  - Bacchetta J
AU  - Lemoine S
PY  - 2026
JO  - Orphanet journal of rare diseases
DO  - 10.1186/s13023-026-04463-7
UR  - https://doi.org/10.1186/s13023-026-04463-7
ER  - 

APA

L, C., A, M., L, D., R, P., C, C., E, L., L, M., D, G., L, A., O, B., MO, R., I, V., F, N., A, Z., C, A., J, B., & S, L. (2026). Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-026-04463-7

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