Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · Journal of Medical Genetics · 162 citations
https://doi.org/10.1136/jmedgenet-2013-101658
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Laurence Lion‐François
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Laurence Lion‐François is an academic researcher from Hôpital Femme Mère Enfant. The author has contributed to research in topics: Trace Elements in Health & Heavy Metal Exposure and Toxicity & Neurofibromatosis and Schwannoma Cases. The author has an h-index of 22, co-authored 51 publications.
Papers by this author
worksSevere neonatal episodic laryngospasm due to de novo <i>SCN4A</i> mutations
2010 · Neurology · 78 citations
https://doi.org/10.1212/wnl.0b013e3181ed9e96
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( <i>SLC6A8</i> )
2024 · Neurology · 9 citations
https://doi.org/10.1212/wnl.0000000000209243
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