Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).

Ramachandran R, Buttigieg R, Eichler F, Leroy BP, Mahroo O, Huckfeldt RM, Firman S, Baldwin E, DeMarco K, Kuranoff S, Fine A, Klingel R, Ferdinandusse S, Hacia JG, Wanders RJ, Wierzbicki AS

Open source

DOI
10.1002/jimd.70201
Published
2026 May
Container
Journal of inherited metabolic disease
Publisher
Not recorded
Open access
unknown

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1002/jimd.70201,
  title = {Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).},
  author = {Ramachandran R and Buttigieg R and Eichler F and Leroy BP and Mahroo O and Huckfeldt RM and Firman S and Baldwin E and DeMarco K and Kuranoff S and Fine A and Klingel R and Ferdinandusse S and Hacia JG and Wanders RJ and Wierzbicki AS},
  year = {2026},
  journal = {Journal of inherited metabolic disease},
  doi = {10.1002/jimd.70201},
  url = {https://doi.org/10.1002/jimd.70201}
}

RIS

TY  - JOUR
TI  - Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).
AU  - Ramachandran R
AU  - Buttigieg R
AU  - Eichler F
AU  - Leroy BP
AU  - Mahroo O
AU  - Huckfeldt RM
AU  - Firman S
AU  - Baldwin E
AU  - DeMarco K
AU  - Kuranoff S
AU  - Fine A
AU  - Klingel R
AU  - Ferdinandusse S
AU  - Hacia JG
AU  - Wanders RJ
AU  - Wierzbicki AS
PY  - 2026
JO  - Journal of inherited metabolic disease
DO  - 10.1002/jimd.70201
UR  - https://doi.org/10.1002/jimd.70201
ER  - 

APA

R, R., R, B., F, E., BP, L., O, M., RM, H., S, F., E, B., K, D., S, K., A, F., R, K., S, F., JG, H., RJ, W., & AS, W. (2026). Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).. Journal of inherited metabolic disease. https://doi.org/10.1002/jimd.70201

Source records