References
- Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nature Rev Dis Primers. 2017;3(1):1–7.
- Garcia B, Catasus N, Ros A, et al. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered? J Med Genet. 2022;59(10):1017–1023. doi:10.1136/jmedgenet-2021-108301
- Krishnan P, Shroff M. Neuroimaging in Neonatal Hypoxic Ischemic Encephalopathy. Indian J Pediatr. 2016;83(9):995–1002. doi:10.1007/s12098-016-2042-1
- Paul SP, Abdelrhim H, Heep A. Management of Hypoxic-ischemic Encephalopathy. Indian J Pediatr. 2015;82(6):493–496. doi:10.1007/s12098-014-1592-3
- Yıldız EP, Ekici B, Tatlı B. Neonatal hypoxic ischemic encephalopathy: an update on disease pathogenesis and treatment. Expert Rev Neurother. 2017;17(5):449–459. doi:10.1080/14737175.2017.1259567
- Cerio FG, Lara-Celador I, Alvarez A, Hilario E. Neuroprotective therapies after perinatal hypoxic-ischemic brain injury. Brain Sci. 2013;3(1):191–214. doi:10.3390/brainsci3010191
- Liu JX, Fang CL, Zhang K, et al. Transcranial Doppler Ultrasonography detection on cerebrovascular flow for evaluating neonatal hypoxic-ischemic encephalopathy modeling. Front Neurosci. 2023;17:962001. doi:10.3389/fnins.2023.962001
- Liu Y, Zhang Z, Liang M, Liu Y, Zhang N, Xu K. Comprehensive imaging analysis of a patient with neurofibromatosis type 1 combined with hypophosphatemic osteomalacia: a case description. Quant Imaging Med Surg. 2023;13(7):4777–4784. doi:10.21037/qims-22-1217
- Farschtschi S, Mautner VF, McLean ACL, Schulz A, Friedrich RE, Rosahl SK. The Neurofibromatoses. Dtsch Arztebl Int. 2020;117(20):354–360. doi:10.3238/arztebl.2020.0354
- Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834–843. doi:10.1016/S1474-4422(14)70063-8
- Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506–1513. doi:10.1038/s41436-021-01170-5
- NIH. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172–178.
- Ferner RE, Gutmann DH. Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol. 2013;115:939–955. doi:10.1016/B978-0-444-52902-2.00053-9
- DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3 Pt 1):608–614. doi:10.1542/peds.105.3.608
- Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR. Health Supervision for Children with Neurofibromatosis Type 1. Pediatrics. 2019;143(5):e20190660. doi:10.1542/peds.2019-0660
- Bergqvist C, Servy A, Valeyrie-Allanore L, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis. 2020;15(1):37. doi:10.1186/s13023-020-1310-3
- Gross AM, Wolters PL, Dombi E, et al. Selumetinib in Children with Inoperable Plexiform Neurofibromas. N Engl J Med. 2020;382(15):1430–1442. doi:10.1056/NEJMoa1912735