BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A

Open source

DOI: 10.1093/brain/awad010
Published: 2023 Jul 3
Container: Brain : a journal of neurology
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1093/brain/awad010,
  title = {BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.},
  author = {Tangeraas T and Constante JR and Backe PH and Oyarzábal A and Neugebauer J and Weinhold N and Boemer F and Debray FG and Ozturk-Hism B and Evren G and Tuba EF and Ummuhan O and Footitt E and Davison J and Martinez C and Bueno C and Machado I and Rodríguez-Pombo P and Al-Sannaa N and De Los Santos M and López JM and Ozturkmen-Akay H and Karaca M and Tekin M and Pajares S and Ormazabal A and Stoway SD and Artuch R and Dixon M and Mørkrid L and García-Cazorla A},
  year = {2023},
  journal = {Brain : a journal of neurology},
  doi = {10.1093/brain/awad010},
  url = {https://doi.org/10.1093/brain/awad010}
}

RIS

TY  - JOUR
TI  - BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
AU  - Tangeraas T
AU  - Constante JR
AU  - Backe PH
AU  - Oyarzábal A
AU  - Neugebauer J
AU  - Weinhold N
AU  - Boemer F
AU  - Debray FG
AU  - Ozturk-Hism B
AU  - Evren G
AU  - Tuba EF
AU  - Ummuhan O
AU  - Footitt E
AU  - Davison J
AU  - Martinez C
AU  - Bueno C
AU  - Machado I
AU  - Rodríguez-Pombo P
AU  - Al-Sannaa N
AU  - De Los Santos M
AU  - López JM
AU  - Ozturkmen-Akay H
AU  - Karaca M
AU  - Tekin M
AU  - Pajares S
AU  - Ormazabal A
AU  - Stoway SD
AU  - Artuch R
AU  - Dixon M
AU  - Mørkrid L
AU  - García-Cazorla A
PY  - 2023
JO  - Brain : a journal of neurology
DO  - 10.1093/brain/awad010
UR  - https://doi.org/10.1093/brain/awad010
ER  -

APA

T, T., JR, C., PH, B., A, O., J, N., N, W., F, B., FG, D., B, O., G, E., EF, T., O, U., E, F., J, D., C, M., C, B., I, M., P, R., N, A., M, D. L. S., JM, L., H, O., M, K., M, T., S, P., A, O., SD, S., R, A., M, D., L, M., & A, G. (2023). BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.. Brain : a journal of neurology. https://doi.org/10.1093/brain/awad010

Source records

pubmed · retrieved 2026-09-25T20:15:46.031Z