Journal of child neurology
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Despite remarkable growth in the clinical neurology literature, there is little research on peer review and biomedical publication in neurology. Biomedical publication research encompasses every step of the research process, from the methodology to the publication of research findings. Some general medical journals have served as leaders in improving scientific publication. ⋯ Not all of these data can be applied to the clinical neurology literature; research methodologies, article types, and the journals themselves are unique to every medical field. This article reviews current publication research in the neurology literature and concludes that, to sustain and improve upon the integrity of clinical neurology research, further study is needed of the journals and the peer review process in neurology. Otherwise, the value of clinical research findings and patient care guidelines will be diminished.
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We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. ⋯ These patients illustrate the importance of genetic testing and prepregnancy counseling. In addition, they demonstrate the need for a multidisciplinary team approach in their management.