Etiology
Di Rienzo M,
Romagnoli A,
Refolo G,
Vescovo T,
Ciccosanti F,
Zuchegna C,
Lozzi F,
Occhigrossi L,
Piacentini M,
Fimia GM
Autophagy
2024 Dec;20(12):2602-2615.
Epub 2024 Sep 2
doi: 10.1080/15548627.2024.2389474.
PMID: 39113560Free PMC Article
Gurubaran IS
Acta Ophthalmol
2024 Mar;102 Suppl 282:3-53.
doi: 10.1111/aos.16661.
PMID: 38467968
Weksler-Zangen S
Cells
2022 May 12;11(10)
doi: 10.3390/cells11101617.
PMID: 35626654Free PMC Article
van de Wal MAE,
Adjobo-Hermans MJW,
Keijer J,
Schirris TJJ,
Homberg JR,
Wieckowski MR,
Grefte S,
van Schothorst EM,
van Karnebeek C,
Quintana A,
Koopman WJH
Brain
2022 Mar 29;145(1):45-63.
doi: 10.1093/brain/awab426.
PMID: 34849584Free PMC Article
Salminen A,
Kaarniranta K,
Kauppinen A,
Ojala J,
Haapasalo A,
Soininen H,
Hiltunen M
Prog Neurobiol
2013 Jul-Aug;106-107:33-54.
Epub 2013 Jul 1
doi: 10.1016/j.pneurobio.2013.06.002.
PMID: 23827971
Diagnosis
Häberle J
J Inherit Metab Dis
2024 Nov;47(6):1129-1133.
Epub 2024 Jul 12
doi: 10.1002/jimd.12772.
PMID: 38994653Free PMC Article
Weksler-Zangen S
Cells
2022 May 12;11(10)
doi: 10.3390/cells11101617.
PMID: 35626654Free PMC Article
Roszczyc-Owsiejczuk K,
Zabielski P
Front Endocrinol (Lausanne)
2021;12:635175.
Epub 2021 Mar 18
doi: 10.3389/fendo.2021.635175.
PMID: 33815291Free PMC Article
González-Gualda E,
Baker AG,
Fruk L,
Muñoz-Espín D
FEBS J
2021 Jan;288(1):56-80.
Epub 2020 Oct 10
doi: 10.1111/febs.15570.
PMID: 32961620
Chen Z,
Zhong C
Prog Neurobiol
2013 Sep;108:21-43.
Epub 2013 Jul 11
doi: 10.1016/j.pneurobio.2013.06.004.
PMID: 23850509
Therapy
Yang K,
Gao R,
Chen H,
Hu J,
Zhang P,
Wei X,
Shi J,
Chen Y,
Zhang L,
Chen J,
Lyu Y,
Dong Z,
Wei W,
Hu K,
Guo Y,
Ge J,
Sun A
Eur Heart J
2024 May 13;45(18):1662-1680.
doi: 10.1093/eurheartj/ehae205.
PMID: 38666340Free PMC Article
Hallakou-Bozec S,
Vial G,
Kergoat M,
Fouqueray P,
Bolze S,
Borel AL,
Fontaine E,
Moller DE
Diabetes Obes Metab
2021 Mar;23(3):664-673.
Epub 2020 Dec 29
doi: 10.1111/dom.14277.
PMID: 33269554Free PMC Article
Elia M,
Klepper J,
Leiendecker B,
Hartmann H
Curr Pharm Des
2017;23(37):5691-5701.
doi: 10.2174/1381612823666170809101517.
PMID: 28799513
Park JB,
Nagar H,
Choi S,
Jung SB,
Kim HW,
Kang SK,
Lee JW,
Lee JH,
Park JW,
Irani K,
Jeon BH,
Song HJ,
Kim CS
Free Radic Biol Med
2016 May;94:36-46.
Epub 2016 Feb 17
doi: 10.1016/j.freeradbiomed.2016.02.017.
PMID: 26898144
Scholl-Bürgi S,
Höller A,
Pichler K,
Michel M,
Haberlandt E,
Karall D
J Inherit Metab Dis
2015 Jul;38(4):765-73.
Epub 2015 Jun 25
doi: 10.1007/s10545-015-9872-2.
PMID: 26109259
Prognosis
Henke MT,
Prigione A,
Schuelke M
J Inherit Metab Dis
2024 Nov;47(6):1292-1321.
Epub 2024 Oct 9
doi: 10.1002/jimd.12804.
PMID: 39385390Free PMC Article
Yang K,
Gao R,
Chen H,
Hu J,
Zhang P,
Wei X,
Shi J,
Chen Y,
Zhang L,
Chen J,
Lyu Y,
Dong Z,
Wei W,
Hu K,
Guo Y,
Ge J,
Sun A
Eur Heart J
2024 May 13;45(18):1662-1680.
doi: 10.1093/eurheartj/ehae205.
PMID: 38666340Free PMC Article
Zhang S,
Zhang Y,
Duan X,
Wang B,
Zhan Z
Circulation
2024 Jun 18;149(25):1982-2001.
Epub 2024 Feb 23
doi: 10.1161/CIRCULATIONAHA.123.065506.
PMID: 38390737Free PMC Article
Skopkova M,
Stufkova H,
Rambani V,
Stranecky V,
Brennerova K,
Kolnikova M,
Pietrzykova M,
Karhanek M,
Noskova L,
Tesarova M,
Hansikova H,
Gasperikova D
Orphanet J Rare Dis
2023 Apr 24;18(1):92.
doi: 10.1186/s13023-023-02689-3.
PMID: 37095554Free PMC Article
van de Wal MAE,
Adjobo-Hermans MJW,
Keijer J,
Schirris TJJ,
Homberg JR,
Wieckowski MR,
Grefte S,
van Schothorst EM,
van Karnebeek C,
Quintana A,
Koopman WJH
Brain
2022 Mar 29;145(1):45-63.
doi: 10.1093/brain/awab426.
PMID: 34849584Free PMC Article
Clinical prediction guides
Di Rienzo M,
Romagnoli A,
Refolo G,
Vescovo T,
Ciccosanti F,
Zuchegna C,
Lozzi F,
Occhigrossi L,
Piacentini M,
Fimia GM
Autophagy
2024 Dec;20(12):2602-2615.
Epub 2024 Sep 2
doi: 10.1080/15548627.2024.2389474.
PMID: 39113560Free PMC Article
Yang K,
Gao R,
Chen H,
Hu J,
Zhang P,
Wei X,
Shi J,
Chen Y,
Zhang L,
Chen J,
Lyu Y,
Dong Z,
Wei W,
Hu K,
Guo Y,
Ge J,
Sun A
Eur Heart J
2024 May 13;45(18):1662-1680.
doi: 10.1093/eurheartj/ehae205.
PMID: 38666340Free PMC Article
Kotschi S,
Jung A,
Willemsen N,
Ofoghi A,
Proneth B,
Conrad M,
Bartelt A
Mol Metab
2022 Mar;57:101436.
Epub 2022 Jan 6
doi: 10.1016/j.molmet.2022.101436.
PMID: 34999280Free PMC Article
Hallakou-Bozec S,
Vial G,
Kergoat M,
Fouqueray P,
Bolze S,
Borel AL,
Fontaine E,
Moller DE
Diabetes Obes Metab
2021 Mar;23(3):664-673.
Epub 2020 Dec 29
doi: 10.1111/dom.14277.
PMID: 33269554Free PMC Article
Choong CJ,
Okuno T,
Ikenaka K,
Baba K,
Hayakawa H,
Koike M,
Yokota M,
Doi J,
Kakuda K,
Takeuchi T,
Kuma A,
Nakamura S,
Nagai Y,
Nagano S,
Yoshimori T,
Mochizuki H
Autophagy
2021 Oct;17(10):2962-2974.
Epub 2020 Dec 10
doi: 10.1080/15548627.2020.1848130.
PMID: 33218272Free PMC Article