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Neurodegeneration with brain iron accumulation.
Hayflick SJ, Kurian MA, Hogarth P. Hayflick SJ, et al. Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. Handb Clin Neurol. 2018. PMID: 29325618 Free PMC article. Review.
The ultrarare NBIA disorders are caused by mutations in CoASY, ATP13A2, and FA2H (causing CoA synthase protein-associated neurodegeneration, Kufor-Rakeb disease, and fatty acid hydroxylase-associated neurodegeneration, respectively). ...
The ultrarare NBIA disorders are caused by mutations in CoASY, ATP13A2, and FA2H (causing CoA synthase protein-associated neurodegeneration, …
Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
Eckhardt M. Eckhardt M. Int J Mol Sci. 2023 Mar 3;24(5):4908. doi: 10.3390/ijms24054908. Int J Mol Sci. 2023. PMID: 36902339 Free PMC article. Review.
Deficiency in FA2H causes a neurodegenerative disease known as hereditary spastic paraplegia 35 (HSP35/SPG35) or fatty acid hydroxylase-associated neurodegeneration (FAHN). FA2H likely also plays a role in other diseases. ...
Deficiency in FA2H causes a neurodegenerative disease known as hereditary spastic paraplegia 35 (HSP35/SPG35) or fatty acid
Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.
Wilson JL, Gregory A, Kurian MA, Bushlin I, Mochel F, Emrick L, Adang L; BPAN Guideline Contributing Author Group; Hogarth P, Hayflick SJ. Wilson JL, et al. Dev Med Child Neurol. 2021 Dec;63(12):1402-1409. doi: 10.1111/dmcn.14980. Epub 2021 Aug 4. Dev Med Child Neurol. 2021. PMID: 34347296 Free article. Review.
BPAN is one of several neurodegenerative disorders with brain iron accumulation along with pantothenate kinase-associated neurodegeneration, PLA2G6-associated neurodegeneration, mitochondrial membrane protein-associated neurodegeneration, fatty acid hydroxylase
BPAN is one of several neurodegenerative disorders with brain iron accumulation along with pantothenate kinase-associated neurodegeneration, …
Syndromes of neurodegeneration with brain iron accumulation.
Schneider SA, Bhatia KP. Schneider SA, et al. Semin Pediatr Neurol. 2012 Jun;19(2):57-66. doi: 10.1016/j.spen.2012.03.005. Semin Pediatr Neurol. 2012. PMID: 22704258 Review.
In addition to pantothenate kinase-associated neurodegeneration (PKAN) and phospholipase A2-associated neurodegeneration (PLAN), fatty acid hydroxylase-associated neurodegeneration (FAHN) NBIA, mitochondrial protein-associated neurodegeneration, …
In addition to pantothenate kinase-associated neurodegeneration (PKAN) and phospholipase A2-associated neurodegeneration (PLAN), fatty
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG. Salomão RP, et al. Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Arq Neuropsiquiatr. 2016. PMID: 27487380 Free article. Review.
The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mi …
The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegene …