Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency.

Aceves-Ewing NM, Li-Villarreal N, Li X, Lalani SR, Rosenfeld JA, Petrosyan V, Milosavljevic A, Gaspero A, Lanza DG, Christiansen AE, Koirala A, Kamal AHM, Putluri N, Coarfa C, Tran B, Lorenzi PL, Tan L, Gijavanekar C, Elsea SH, Lawrence E, Cuny H, Dunwoodie SL, Liu P, Zhouyao H, Rasmussen TL, Dickinson ME, Bacino CA, Lee B, Marom R, Undiagnosed Diseases Network, BCM Center for Precision Medicine Models, Heaney JD, Hsu CW, Burrage LC

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DOI: 10.64898/2026.08.24.26360911
Published: 2026 Aug 27
Container: medRxiv : the preprint server for health sciences
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.64898/2026.08.24.26360911,
  title = {Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency.},
  author = {Aceves-Ewing NM and Li-Villarreal N and Li X and Lalani SR and Rosenfeld JA and Petrosyan V and Milosavljevic A and Gaspero A and Lanza DG and Christiansen AE and Koirala A and Kamal AHM and Putluri N and Coarfa C and Tran B and Lorenzi PL and Tan L and Gijavanekar C and Elsea SH and Lawrence E and Cuny H and Dunwoodie SL and Liu P and Zhouyao H and Rasmussen TL and Dickinson ME and Bacino CA and Lee B and Marom R and Undiagnosed Diseases Network and BCM Center for Precision Medicine Models and Heaney JD and Hsu CW and Burrage LC},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.08.24.26360911},
  url = {https://doi.org/10.64898/2026.08.24.26360911}
}

RIS

TY  - JOUR
TI  - Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency.
AU  - Aceves-Ewing NM
AU  - Li-Villarreal N
AU  - Li X
AU  - Lalani SR
AU  - Rosenfeld JA
AU  - Petrosyan V
AU  - Milosavljevic A
AU  - Gaspero A
AU  - Lanza DG
AU  - Christiansen AE
AU  - Koirala A
AU  - Kamal AHM
AU  - Putluri N
AU  - Coarfa C
AU  - Tran B
AU  - Lorenzi PL
AU  - Tan L
AU  - Gijavanekar C
AU  - Elsea SH
AU  - Lawrence E
AU  - Cuny H
AU  - Dunwoodie SL
AU  - Liu P
AU  - Zhouyao H
AU  - Rasmussen TL
AU  - Dickinson ME
AU  - Bacino CA
AU  - Lee B
AU  - Marom R
AU  - Undiagnosed Diseases Network
AU  - BCM Center for Precision Medicine Models
AU  - Heaney JD
AU  - Hsu CW
AU  - Burrage LC
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.08.24.26360911
UR  - https://doi.org/10.64898/2026.08.24.26360911
ER  -

APA

NM, A., N, L., X, L., SR, L., JA, R., V, P., A, M., A, G., DG, L., AE, C., A, K., AHM, K., N, P., C, C., B, T., PL, L., L, T., C, G., SH, E., E, L., H, C., SL, D., P, L., H, Z., TL, R., ME, D., CA, B., B, L., R, M., Network, U. D., Models, B. C. F. P. M., JD, H., CW, H., & LC, B. (2026). Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.08.24.26360911

Source records

pubmed · retrieved 2026-09-26T17:32:57.546Z