@article{peoch:hal-02472236,
TITLE = {Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family},
AUTHOR = {Peoc'H, Katell and Damaj, Lena and Pelletier, Romain and Lefevre, Charles and Dubourg, Christ{\`e}le and Denis, Marie-Christine and Bendavid, Claude and Odent, Sylvie and Moreau, Caroline},
URL = {https://univ-rennes.hal.science/hal-02472236},
JOURNAL = {Molecular Genetics and Metabolism Reports},
PUBLISHER = {Elsevier},
VOLUME = {22},
PAGES = {100558},
YEAR = {2020},
MONTH = Mar, DOI = {10.1016/j.ymgmr.2019.100558},
KEYWORDS = {Carbaglumic acid ; Hyperammonemia ; N-acetylglutamate synthase deficiency ; Prenatal diagnosis ; Urea cycle defect},
PDF = {https://univ-rennes.hal.science/hal-02472236/file/hal-02472236.pdf},
HAL_ID = {hal-02472236},
HAL_VERSION = {v1},
}