Guerrero RB, Kloke KM, Salazar D. Inborn Errors of Metabolism and the Gastrointestinal Tract. Gastroenterol Clin North Am. 2019 Jun;48(2):183-198. doi: 10.1016/j.gtc.2019.02.001. Epub 2019 Apr 1. PMID: 31046970.
Casertano A, Rossi A, Fecarotta S, Rosanio FM, Moracas C, Di Candia F, Parenti G, Franzese A, Mozzillo E. An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use. Front Endocrinol (Lausanne). 2021 Aug 2;12:684011. doi: 10.3389/fendo.2021.684011. PMID: 34408725; PMCID: PMC8366517.
Gataullina S, Delonlay P, Lemaire E, Boddaert N, Bulteau C, Soufflet C, Laín GA, Nabbout R, Chiron C, Dulac O. Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. Dev Med Child Neurol. 2015 Feb;57(2):194-9. doi: 10.1111/dmcn.12574. Epub 2014 Aug 22. PMID: 25145506.
Žigman T, Petković Ramadža D, Šimić G, Barić I. Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention. Front Neurosci. 2021 May 28;15:673600. doi: 10.3389/fnins.2021.673600. PMID: 34121999; PMCID: PMC8193223.
Ghaziuddin M, Al-Owain M. Autism spectrum disorders and inborn errors of metabolism: an update. Pediatr Neurol. 2013 Oct;49(4):232-6. doi: 10.1016/j.pediatrneurol.2013.05.013. Epub 2013 Aug 3. PMID: 23921282.
Cakar NE, Yilmazbas P. Cases of inborn errors of metabolism diagnosed in children with autism. Ideggyogy Sz. 2021 Jan 30;74(1-2):67-72. English. doi: 10.18071/isz.74.0067. PMID: 33497052.
İnci A, Özaslan A, Okur İ, Biberoğlu G, Güney E, Ezgü FS, Tümer L, İşeri E. Autism: Screening of inborn errors of metabolism and unexpected results. Autism Res. 2021 May;14(5):887-896. doi: 10.1002/aur.2486. Epub 2021 Feb 19. PMID: 33605552.
Ahmadabadi F, Nemati H, Abdolmohammadzadeh A, Ahadi A. Autistic feature as a presentation of Inborn Errors of Metabolism. Iran J Child Neurol. 2020 Fall;14(4):17-28. PMID: 33193781; PMCID: PMC7660030.
Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A. Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 May;34(5):598-613. doi: 10.1002/mds.27568. Epub 2018 Dec 17. PMID: 30557456.
Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis. 2008 Jun;31(3):308-18. doi: 10.1007/s10545-008-0854-5. Epub 2008 May 30. PMID: 18563632.
Koens LH, de Vries JJ, Vansenne F, de Koning TJ, Tijssen MAJ. How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach. Parkinsonism Relat Disord. 2021 Apr;85:124-132. doi: 10.1016/j.parkreldis.2021.02.029. Epub 2021 Mar 2. PMID: 33745796.
García-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol J, Fernández-Alvarez E, Colomer J, DiMauro S, Hoffmann GF. Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis. 2009 Oct;32(5):618-29. doi: 10.1007/s10545-009-1194-9. PMID: 19731074.
Sharma S, Prasad AN. Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches. Int J Mol Sci. 2017 Jul 2;18(7):1384. doi: 10.3390/ijms18071384. PMID: 28671587; PMCID: PMC5535877.
Tumienė B, Peterlin B, Maver A, Utkus A. Contemporary scope of inborn errors of metabolism involving epilepsy or seizures. Metab Brain Dis. 2018 Dec;33(6):1781-1786. doi: 10.1007/s11011-018-0288-1. Epub 2018 Jul 13. PMID: 30006695.
Campistol J. Epilepsy in Inborn Errors of Metabolism With Therapeutic Options. Semin Pediatr Neurol. 2016 Nov;23(4):321-331. doi: 10.1016/j.spen.2016.11.006. Epub 2016 Nov 9. PMID: 28284393.
Rahman S, Footitt EJ, Varadkar S, Clayton PT. Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol. 2013 Jan;55(1):23-36. doi: 10.1111/j.1469-8749.2012.04406.x. Epub 2012 Sep 24. PMID: 22998469.
Dulac O, Plecko B, Gataullina S, Wolf NI. Occasional seizures, epilepsy, and inborn errors of metabolism. Lancet Neurol. 2014 Jul;13(7):727-39. doi: 10.1016/S1474-4422(14)70110-3. PMID: 24943345.
Wolf NI, García-Cazorla A, Hoffmann GF. Epilepsy and inborn errors of metabolism in children. J Inherit Metab Dis. 2009 Oct;32(5):609. doi: 10.1007/s10545-009-1171-3. Epub 2009 Jul 31. PMID: 19642011.
Wolf NI, Bast T, Surtees R. Epilepsy in inborn errors of metabolism. Epileptic Disord. 2005 Jun;7(2):67-81. PMID: 15929908.
Sedel F, Gourfinkel-An I, Lyon-Caen O, Baulac M, Saudubray JM, Navarro V. Epilepsy and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis. 2007 Nov;30(6):846-54. doi: 10.1007/s10545-007-0723-7. Epub 2007 Oct 22. PMID: 17957491.
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M. Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review. Metab Brain Dis. 2021 Dec;36(8):2195-2203. doi: 10.1007/s11011-021-00798-1. Epub 2021 Aug 17. PMID: 34403026; PMCID: PMC8580891.
Ficicioglu C, Bearden D. Isolated neonatal seizures: when to suspect inborn errors of metabolism. Pediatr Neurol. 2011 Nov;45(5):283-91. doi: 10.1016/j.pediatrneurol.2011.07.006. PMID: 22000307.
Sharma S, Prasad AN. Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches. Int J Mol Sci. 2017 Jul 2;18(7):1384. doi: 10.3390/ijms18071384. PMID: 28671587; PMCID: PMC5535877.
Vasudevan C, Levene M. Epidemiology and aetiology of neonatal seizures. Semin Fetal Neonatal Med. 2013 Aug;18(4):185-91. doi: 10.1016/j.siny.2013.05.008. Epub 2013 Jun 5. PMID: 23746578.
Reddy C, Saini AG. Metabolic Epilepsy. Indian J Pediatr. 2021 Oct;88(10):1025-1032. doi: 10.1007/s12098-020-03510-w. Epub 2020 Oct 16. PMID: 33063276.
Kaminiów K, Kozak S, Paprocka J. Neonatal Seizures Revisited. Children (Basel). 2021 Feb 18;8(2):155. doi: 10.3390/children8020155. PMID: 33670692; PMCID: PMC7922511.
Almannai M, Al Mahmoud RA, Mekki M, El-Hattab AW. Metabolic Seizures. Front Neurol. 2021 Jul 6;12:640371. doi: 10.3389/fneur.2021.640371. PMID: 34295297; PMCID: PMC8290068.
Brimble E, Ruzhnikov MRZ. Metabolic Disorders Presenting with Seizures in the Neonatal Period. Semin Neurol. 2020 Apr;40(2):219-235. doi: 10.1055/s-0040-1705119. Epub 2020 Mar 17. PMID: 32185789.
Campistol J, Plecko B. Treatable newborn and infant seizures due to inborn errors of metabolism. Epileptic Disord. 2015 Sep;17(3):229-42. doi: 10.1684/epd.2015.0754. PMID: 26234933.
