An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR.
Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12.
Osteopetrosis.
Stark Z, Savarirayan R.
Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5.
Late metabolic acidosis.
Essin D.
J Pediatr. 1980 Sep;97(3):509-10. doi: 10.1016/s0022-3476(80)80234-4.
Propionic Acidemia.
Galarreta Aima CI, Shchelochkov OA, Jerves Serrano T, Venditti CP.
2012 May 17 [updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Dihydrolipoamide Dehydrogenase Deficiency.
Quinonez SC, Thoene JG.
2014 Jul 17 [updated 2021 Sep 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Analysis of CTG patterns in cases with metabolic acidosis at birth with and without neonatal neurological alterations.
Attini R, Montersino B, Versino E, Messina A, Mastretta E, Parisi S, Germano C, Quattromani M, Casula V, Mappa I, Revelli A, Masturzo B.
J Matern Fetal Neonatal Med. 2024 Dec;37(1):2377718. doi: 10.1080/14767058.2024.2377718. Epub 2024 Aug 11.
Fructose-1,6-Bisphosphatase Deficiency.
Bijarnia-Mahay S, Bhatia S, Arora V.
2019 Dec 5. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Normal Anion-Gap Metabolic Acidosis in an Extremely Preterm Neonate.
Murugesan A, Cs S.
Indian J Pediatr. 2023 Feb;90(2):187-189. doi: 10.1007/s12098-022-04402-x. Epub 2022 Dec 9.
Hypertyrosinemia.
Adnan M, Puranik S.
2022 Nov 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Late onset oxygen requirement following neonatal therapeutic hypothermia.
El-Dib M, Munster C, Szakmar E, Inder T, Gunn AJ.
Acta Paediatr. 2020 Nov;109(11):2258-2265. doi: 10.1111/apa.15222. Epub 2020 Feb 26.
