Peer-reviewedCC BY-NCJournal of inherited metabolic disease12 Oct 2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

I. J. J. Muffels¹
G. Kok¹
Z. Tang²
L. S. Medeiros³
F. O. Poswar³
W. P. Vermeij²
R. Rodenburg⁴
K. Smit²
S. K. Sukumaran⁵
S. B. Wortmann⁶
L. Averdunk⁷
J. Munch⁷

10 more authors

J. Pak‐lam Ho⁸
A. M. K. Kwok⁸
E. E. S. Nieuwenhuis²
P. M. van Hasselt¹
I. V. D. Schwartz³
C. M. A. Lubout⁹
A. M. Bosch¹⁰
K. Koop¹
E. M. M. Hoytema van Konijnenburg¹
S. A. Fuchs¹

10 affiliations

¹Utrecht University
²Princess Máxima Center for Pediatric Oncology
³Federal University of Rio Grande do Sul
⁴Radboud UMC
⁵Jawaharlal Institute of Postgraduate Medical Education and Research
⁶University Children's Hospital, Paracelsus Private Medical University
⁷University Hospital Düsseldorf, Heinrich‐Heine‐University
⁸The Hong Kong Children's Hospital
⁹University of Groningen, University Medical Center Groningen
¹⁰Amsterdam UMC‐AMC

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BibTeX RIS

BibTeX

@article{muffels2026tailored,
  title = {{Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies}},
  author = {I. J. J. Muffels and G. Kok and Z. Tang and L. S. Medeiros and F. O. Poswar and W. P. Vermeij and R. Rodenburg and K. Smit and S. K. Sukumaran and S. B. Wortmann and L. Averdunk and J. Munch and J. Pak‐lam Ho and A. M. K. Kwok and E. E. S. Nieuwenhuis and P. M. van Hasselt and I. V. D. Schwartz and C. M. A. Lubout and A. M. Bosch and K. Koop and E. M. M. Hoytema van Konijnenburg and S. A. Fuchs},
  journal = {Journal of inherited metabolic disease},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13657799},
  note = {CC BY-NC},
}

RIS

TY  - JOUR
TI  - Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies
AU  - I. J. J. Muffels
AU  - G. Kok
AU  - Z. Tang
AU  - L. S. Medeiros
AU  - F. O. Poswar
AU  - W. P. Vermeij
AU  - R. Rodenburg
AU  - K. Smit
AU  - S. K. Sukumaran
AU  - S. B. Wortmann
AU  - L. Averdunk
AU  - J. Munch
AU  - J. Pak‐lam Ho
AU  - A. M. K. Kwok
AU  - E. E. S. Nieuwenhuis
AU  - P. M. van Hasselt
AU  - I. V. D. Schwartz
AU  - C. M. A. Lubout
AU  - A. M. Bosch
AU  - K. Koop
AU  - E. M. M. Hoytema van Konijnenburg
AU  - S. A. Fuchs
PY  - 2026
DA  - 2026/10/12
JO  - Journal of inherited metabolic disease
UR  - https://europepmc.org/article/PMC/PMC13657799
SN  - 0141-8955
SN  - 1573-2665
ER  -

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