Sources used (N = 44) to generate literature cohort.

Year	Author	Journal
2019	Kilic et al	Metabolic Brain Disease
2018	Zubaida et al	Journal of Genetics
2018	Ranjan and Patra	Journal of Pediatric Neurosciences
2018	Feng et al	Metabolic Brain Disease
2018	Kamate	Annals of Indian Academy of Neurology
2018	Sharawat et al	The Journal of Pediatrics
2016	Kumar Bharwaj and Khera	Indian Pediatrics
2016	Bersani et al	Journal of the German Society of Dermatology
2015	Papathemeli et al	JAMA Dermatology
2015	Vedak et al	Pediatric Dermatology
2015	Bidchol et al	Gene
2015	Padhi et al	Seminars in Ophthalmology
2014	Armstrong-Javors and Chu	Neurology
2014	Sidhu and Misra	The Journal of Pediatrics
2014	King et al	Journal of Genetic Counseling
2013	Abilkassem and Agadr	The Pan African Medical Journal
2013	Hackbart et al	The Journal of Pediatrics
2013	Sperb et al	Gene
2012	Lei et al	World Journal of Pediatrics
2011	Nada et al	Metabolic Brain Disease
2011	Dweikat et al	Indian Journal of Dermatology
2011	Caciotti et al	Biochimica et Biophysica Acta
2010	Yang et al	Journal of Biomedical Science
2010	Hofer et al	Clinical Genetics
2009	Khatiwada and Pokharel	Journal of the Nepal Medical Association
2008	Brunetti-Pierri et al	Journal of Child Neurology
2007	Brunetti-Pierri et al	Journal of Inherited Metabolic Disease
2007	Vattoth et al	The Neuroradiology Journal
2007	Santamaria et al	Clinical Genetics
2007	Caciotti et al	Human Mutation
2006	Erol et al	European Journal of Paediatric Neurology
2006	Pavlu et al	British Journal of Haematology
2006	Santamaria et al	Human Mutation
2006	Bloch et al	Acta Dermato-Venereologica
2006	Sinigerska et al	Molecular Genetics and Metabolism
2006	Ashrafi et al	Pediatric Neurology
2005	Sinelli et al	Acta Paediatrica
2005	Di Rocco et al	Neuropediatrics
2005	Georgiou et al	Genetic Testing
2005	Gururaj et al	Journal of Child Neurology
2004	Van der Voorn et al	Acta Neuropathologica
2000	Lin et al	Acta Paediatrica
2000	Morrone et al	Human Mutation
2000	Folkerth et al	Pediatric and Developmental Pathology