Etiology
Wanders RJA,
Baes M,
Ribeiro D,
Ferdinandusse S,
Waterham HR
Physiol Rev
2023 Jan 1;103(1):957-1024.
Epub 2022 Aug 11
doi: 10.1152/physrev.00051.2021.
PMID: 35951481
Aubourg P,
Wanders R
Handb Clin Neurol
2013;113:1593-609.
doi: 10.1016/B978-0-444-59565-2.00028-9.
PMID: 23622381
Depreter M,
Espeel M,
Roels F
Microsc Res Tech
2003 Jun 1;61(2):203-23.
doi: 10.1002/jemt.10330.
PMID: 12740827
Wanders RJ,
Jansen GA,
Lloyd MD
Biochim Biophys Acta
2003 Mar 17;1631(2):119-35.
doi: 10.1016/s1388-1981(03)00003-9.
PMID: 12633678
Portsteffen H,
Beyer A,
Becker E,
Epplen C,
Pawlak A,
Kunau WH,
Dodt G
Nat Genet
1997 Dec;17(4):449-52.
doi: 10.1038/ng1297-449.
PMID: 9398848
Diagnosis
Boltshauser E,
Weber KP
Handb Clin Neurol
2018;154:287-298.
doi: 10.1016/B978-0-444-63956-1.00017-5.
PMID: 29903445
Aubourg P,
Wanders R
Handb Clin Neurol
2013;113:1593-609.
doi: 10.1016/B978-0-444-59565-2.00028-9.
PMID: 23622381
Paller AS
Dermatol Clin
1994 Jan;12(1):99-107.
PMID: 7511491
Aubourg P,
Scotto J,
Rocchiccioli F,
Feldmann-Pautrat D,
Robain O
J Neurol Neurosurg Psychiatry
1986 Jan;49(1):77-86.
doi: 10.1136/jnnp.49.1.77.
PMID: 2420940Free PMC Article
Williams ML
Pediatr Dermatol
1983 Jul;1(1):1-24.
doi: 10.1111/j.1525-1470.1983.tb01087.x.
PMID: 6208542
Therapy
Picher-Martel V,
Dupre N
CNS Neurol Disord Drug Targets
2018;17(3):161-171.
doi: 10.2174/1871527317666180419115029.
PMID: 29676235
Smith AD,
Refsum H,
Bottiglieri T,
Fenech M,
Hooshmand B,
McCaddon A,
Miller JW,
Rosenberg IH,
Obeid R
J Alzheimers Dis
2018;62(2):561-570.
doi: 10.3233/JAD-171042.
PMID: 29480200Free PMC Article
Weinstein R
J Clin Apher
1999;14(4):181-4.
doi: 10.1002/(sici)1098-1101(1999)14:4<181::aid-jca5>3.0.co;2-z.
PMID: 10611628
Jansen GA,
Mihalik SJ,
Watkins PA,
Moser HW,
Jakobs C,
Heijmans HS,
Wanders RJ
J Inherit Metab Dis
1997 Jul;20(3):444-6.
doi: 10.1023/a:1005379406639.
PMID: 9266377
Millar JH
Ulster Med J
1985 Apr;54(1):41-5.
PMID: 2417395Free PMC Article
Prognosis
Yu J,
Refsum E,
Perrin V,
Helsingen LM,
Wieszczy P,
Løberg M,
Bretthauer M,
Adami HO,
Ye W,
Blom J,
Kalager M
Ann Oncol
2022 Jun;33(6):649-656.
Epub 2022 Mar 8
doi: 10.1016/j.annonc.2022.02.226.
PMID: 35276334
Oulhaj A,
Refsum H,
Beaumont H,
Williams J,
King E,
Jacoby R,
Smith AD
Int J Geriatr Psychiatry
2010 Jan;25(1):82-90.
doi: 10.1002/gps.2303.
PMID: 19484711
Matsumoto N,
Tamura S,
Furuki S,
Miyata N,
Moser A,
Shimozawa N,
Moser HW,
Suzuki Y,
Kondo N,
Fujiki Y
Am J Hum Genet
2003 Aug;73(2):233-46.
Epub 2003 Jul 8
doi: 10.1086/377004.
PMID: 12851857Free PMC Article
Depreter M,
Espeel M,
Roels F
Microsc Res Tech
2003 Jun 1;61(2):203-23.
doi: 10.1002/jemt.10330.
PMID: 12740827
Aubourg P,
Scotto J,
Rocchiccioli F,
Feldmann-Pautrat D,
Robain O
J Neurol Neurosurg Psychiatry
1986 Jan;49(1):77-86.
doi: 10.1136/jnnp.49.1.77.
PMID: 2420940Free PMC Article
Clinical prediction guides
Parkes EE,
Savage KI,
Lioe T,
Boyd C,
Halliday S,
Walker SM,
Lowry K,
Knight L,
Buckley NE,
Grogan A,
Logan GE,
Clayton A,
Hurwitz J,
Kirk SJ,
Xu J,
Sidi FA,
Humphries MP,
Bingham V;
Neo-DDIR Investigators,
James JA,
James CR,
Paul Harkin D,
Kennedy RD,
McIntosh SA
Br J Cancer
2022 Feb;126(2):247-258.
Epub 2021 Nov 2
doi: 10.1038/s41416-021-01599-0.
PMID: 34728791Free PMC Article
Menon GK,
Lee SE,
Lee SH
J Dermatol Sci
2018 Oct;92(1):10-17.
Epub 2018 Mar 8
doi: 10.1016/j.jdermsci.2018.03.005.
PMID: 30153959
Oulhaj A,
Refsum H,
Beaumont H,
Williams J,
King E,
Jacoby R,
Smith AD
Int J Geriatr Psychiatry
2010 Jan;25(1):82-90.
doi: 10.1002/gps.2303.
PMID: 19484711
Suzuki Y,
Shimozawa N,
Imamura A,
Fukuda S,
Zhang Z,
Orii T,
Kondo N
J Inherit Metab Dis
2001 Apr;24(2):151-65.
doi: 10.1023/a:1010310816743.
PMID: 11405337
Fujiwara C,
Imamura A,
Hashiguchi N,
Shimozawa N,
Suzuki Y,
Kondo N,
Imanaka T,
Tsukamoto T,
Osumi T
J Biol Chem
2000 Nov 24;275(47):37271-7.
doi: 10.1074/jbc.M006347200.
PMID: 10960480