Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.

Cifuentes-Uribe K, Girard S, Froissart R, Pettazzoni M, Guffon N

Open source

DOI
10.1002/jmd2.70117
Published
2026 Sep
Container
JIMD reports
Publisher
Not recorded
Open access
yes

Credibility signals

limited evidence Score 45/100 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/jmd2.70117,
  title = {Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.},
  author = {Cifuentes-Uribe K and Girard S and Froissart R and Pettazzoni M and Guffon N},
  year = {2026},
  journal = {JIMD reports},
  doi = {10.1002/jmd2.70117},
  url = {https://doi.org/10.1002/jmd2.70117}
}

RIS

TY  - JOUR
TI  - Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.
AU  - Cifuentes-Uribe K
AU  - Girard S
AU  - Froissart R
AU  - Pettazzoni M
AU  - Guffon N
PY  - 2026
JO  - JIMD reports
DO  - 10.1002/jmd2.70117
UR  - https://doi.org/10.1002/jmd2.70117
ER  - 

APA

K, C., S, G., R, F., M, P., & N, G. (2026). Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.. JIMD reports. https://doi.org/10.1002/jmd2.70117

Source records