Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

Judith S. Miller, Cristan Farmer, Susan Blair, Simona Bianconi, Natacha Akshoomoff, Irina Anselm, Bruce A. Barshop, Lindsey Becker, Amanda E. Bennett, Leandra N. Berry, Elizabeth M. Berry-Kravis, Aleksandra Bruchey, Anna W. Byars, Tricia Cimms, Kim M. Cecil, Maxine Covello, Laura S. Cubit, Tanvi Das, Robert J. Davis, Madison Drye, Can Ficicioglu, John B. Fulton, Robin P. Goin-Kochel, Whitney Guthrie, Barbara E. Hallinan, Fady Hannah-Shmouni, Kathryn E. Gustafson, Dwight D. Koeberl, Nicola Longo, Eva Mamak, Saadet Mercimek-Andrews, Claire Michalak, Forbes D. Porter, Samar Rahhal, Linda Rees, Gail A. Spiridigliozzi, Caitlin Stone, Nancy R. Sullivan, V. Reid Sutton, Rebecca P. Thomas, Manisha Udhnani, Susan Waisbren, Michelle Xu, Lin Zhang, Melanie Brandabur, Audrey Thurm

Open source

DOI: 10.1016/j.pediatrneurol.2025.10.023
Published: 2026-02
Container: Pediatric Neurology
Publisher: Elsevier BV
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1016/j.pediatrneurol.2025.10.023,
  title = {Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study},
  author = {Judith S. Miller and Cristan Farmer and Susan Blair and Simona Bianconi and Natacha Akshoomoff and Irina Anselm and Bruce A. Barshop and Lindsey Becker and Amanda E. Bennett and Leandra N. Berry and Elizabeth M. Berry-Kravis and Aleksandra Bruchey and Anna W. Byars and Tricia Cimms and Kim M. Cecil and Maxine Covello and Laura S. Cubit and Tanvi Das and Robert J. Davis and Madison Drye and Can Ficicioglu and John B. Fulton and Robin P. Goin-Kochel and Whitney Guthrie and Barbara E. Hallinan and Fady Hannah-Shmouni and Kathryn E. Gustafson and Dwight D. Koeberl and Nicola Longo and Eva Mamak and Saadet Mercimek-Andrews and Claire Michalak and Forbes D. Porter and Samar Rahhal and Linda Rees and Gail A. Spiridigliozzi and Caitlin Stone and Nancy R. Sullivan and V. Reid Sutton and Rebecca P. Thomas and Manisha Udhnani and Susan Waisbren and Michelle Xu and Lin Zhang and Melanie Brandabur and Audrey Thurm},
  year = {2026},
  journal = {Pediatric Neurology},
  doi = {10.1016/j.pediatrneurol.2025.10.023},
  url = {https://doi.org/10.1016/j.pediatrneurol.2025.10.023}
}

RIS

TY  - JOUR
TI  - Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study
AU  - Judith S. Miller
AU  - Cristan Farmer
AU  - Susan Blair
AU  - Simona Bianconi
AU  - Natacha Akshoomoff
AU  - Irina Anselm
AU  - Bruce A. Barshop
AU  - Lindsey Becker
AU  - Amanda E. Bennett
AU  - Leandra N. Berry
AU  - Elizabeth M. Berry-Kravis
AU  - Aleksandra Bruchey
AU  - Anna W. Byars
AU  - Tricia Cimms
AU  - Kim M. Cecil
AU  - Maxine Covello
AU  - Laura S. Cubit
AU  - Tanvi Das
AU  - Robert J. Davis
AU  - Madison Drye
AU  - Can Ficicioglu
AU  - John B. Fulton
AU  - Robin P. Goin-Kochel
AU  - Whitney Guthrie
AU  - Barbara E. Hallinan
AU  - Fady Hannah-Shmouni
AU  - Kathryn E. Gustafson
AU  - Dwight D. Koeberl
AU  - Nicola Longo
AU  - Eva Mamak
AU  - Saadet Mercimek-Andrews
AU  - Claire Michalak
AU  - Forbes D. Porter
AU  - Samar Rahhal
AU  - Linda Rees
AU  - Gail A. Spiridigliozzi
AU  - Caitlin Stone
AU  - Nancy R. Sullivan
AU  - V. Reid Sutton
AU  - Rebecca P. Thomas
AU  - Manisha Udhnani
AU  - Susan Waisbren
AU  - Michelle Xu
AU  - Lin Zhang
AU  - Melanie Brandabur
AU  - Audrey Thurm
PY  - 2026
JO  - Pediatric Neurology
DO  - 10.1016/j.pediatrneurol.2025.10.023
UR  - https://doi.org/10.1016/j.pediatrneurol.2025.10.023
ER  -

APA

Miller, J. S., Farmer, C., Blair, S., Bianconi, S., Akshoomoff, N., Anselm, I., Barshop, B. A., Becker, L., Bennett, A. E., Berry, L. N., Berry-Kravis, E. M., Bruchey, A., Byars, A. W., Cimms, T., Cecil, K. M., Covello, M., Cubit, L. S., Das, T., Davis, R. J., Drye, M., Ficicioglu, C., Fulton, J. B., Goin-Kochel, R. P., Guthrie, W., Hallinan, B. E., Hannah-Shmouni, F., Gustafson, K. E., Koeberl, D. D., Longo, N., Mamak, E., Mercimek-Andrews, S., Michalak, C., Porter, F. D., Rahhal, S., Rees, L., Spiridigliozzi, G. A., Stone, C., Sullivan, N. R., Sutton, V. R., Thomas, R. P., Udhnani, M., Waisbren, S., Xu, M., Zhang, L., Brandabur, M., & Thurm, A. (2026). Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. Pediatric Neurology. https://doi.org/10.1016/j.pediatrneurol.2025.10.023

Source records

crossref · retrieved 2026-09-26T23:41:27.739Z