Etiology
Orylska-Ratynska M,
Placek W,
Owczarczyk-Saczonek A
Int J Environ Res Public Health
2022 Jun 13;19(12)
doi: 10.3390/ijerph19127246.
PMID: 35742496Free PMC Article
Negi S,
Bala L,
Shukla S,
Chopra D
Toxicol Ind Health
2022 Jul;38(7):417-434.
Epub 2022 May 19
doi: 10.1177/07482337221100870.
PMID: 35592919
Api AM,
Belsito D,
Biserta S,
Botelho D,
Bruze M,
Burton GA Jr,
Buschmann J,
Cancellieri MA,
Dagli ML,
Date M,
Dekant W,
Deodhar C,
Fryer AD,
Gadhia S,
Jones L,
Joshi K,
Lapczynski A,
Lavelle M,
Liebler DC,
Na M,
O'Brien D,
Patel A,
Penning TM,
Ritacco G,
Rodriguez-Ropero F,
Romine J,
Sadekar N,
Salvito D,
Schultz TW,
Siddiqi F,
Sipes IG,
Sullivan G,
Thakkar Y,
Tokura Y,
Tsang S
Food Chem Toxicol
2021 Mar;149 Suppl 1:111981.
Epub 2021 Feb 10
doi: 10.1016/j.fct.2021.111981.
PMID: 33577945
Bhavsar KV,
Michel Z,
Greenwald M,
Cunningham ET Jr,,
Freund KB
Surv Ophthalmol
2021 Mar-Apr;66(2):231-260.
Epub 2020 Jul 3
doi: 10.1016/j.survophthal.2020.06.006.
PMID: 32628946
Ouyang X,
Yang J,
Hong Z,
Wu Y,
Xie Y,
Wang G
Biomed Pharmacother
2020 Oct;130:110577.
Epub 2020 Aug 4
doi: 10.1016/j.biopha.2020.110577.
PMID: 32763817
Diagnosis
Dickey AK,
Naik H,
Keel SB,
Levy C,
Beaven SW,
Elmariah SB,
Erwin AL,
Goddu RJ,
Hedstrom K,
Leaf RK,
Kazamel M,
Mazepa M,
Philpotts LL,
Quigley J,
Raef H,
Rudnick SR,
Saberi B,
Thapar M,
Ungar J,
Wang B,
Balwani M;
Porphyrias Consortium of the Rare Diseases Clinical Research Network
J Am Acad Dermatol
2023 Dec;89(6):1227-1237.
Epub 2022 Aug 27
doi: 10.1016/j.jaad.2022.08.036.
PMID: 36041558Free PMC Article
Montgomery S,
Worswick S
Clin Dermatol
2022 Jan-Feb;40(1):57-63.
Epub 2021 Aug 8
doi: 10.1016/j.clindermatol.2021.08.014.
PMID: 35190066
Wu J,
Lu Z,
Jiang D,
Guo Y,
Qiao H,
Zhang Y,
Zhu T,
Cai Y,
Zhang X,
Zhanghao K,
Xie H,
Yan T,
Zhang G,
Li X,
Jiang Z,
Lin X,
Fang L,
Zhou B,
Xi P,
Fan J,
Yu L,
Dai Q
Cell
2021 Jun 10;184(12):3318-3332.e17.
Epub 2021 May 25
doi: 10.1016/j.cell.2021.04.029.
PMID: 34038702
Lawrenson JG,
Hull CC,
Downie LE
Ophthalmic Physiol Opt
2017 Nov;37(6):644-654.
doi: 10.1111/opo.12406.
PMID: 29044670
Dawe RS,
Ibbotson SH
Dermatol Clin
2014 Jul;32(3):363-8, ix.
doi: 10.1016/j.det.2014.03.014.
PMID: 24891058
Therapy
Balwani M,
Bonkovsky HL,
Levy C,
Anderson KE,
Bissell DM,
Parker C,
Takahashi F,
Desnick RJ,
Belongie K;
Endeavor Investigators
N Engl J Med
2023 Apr 13;388(15):1376-1385.
doi: 10.1056/NEJMoa2208754.
PMID: 37043653
Negi S,
Bala L,
Shukla S,
Chopra D
Toxicol Ind Health
2022 Jul;38(7):417-434.
Epub 2022 May 19
doi: 10.1177/07482337221100870.
PMID: 35592919
Montgomery S,
Worswick S
Clin Dermatol
2022 Jan-Feb;40(1):57-63.
Epub 2021 Aug 8
doi: 10.1016/j.clindermatol.2021.08.014.
PMID: 35190066
Ouyang X,
Yang J,
Hong Z,
Wu Y,
Xie Y,
Wang G
Biomed Pharmacother
2020 Oct;130:110577.
Epub 2020 Aug 4
doi: 10.1016/j.biopha.2020.110577.
PMID: 32763817
Lawrenson JG,
Hull CC,
Downie LE
Ophthalmic Physiol Opt
2017 Nov;37(6):644-654.
doi: 10.1111/opo.12406.
PMID: 29044670
Prognosis
Diniz RR,
de Pádula M,
de Souza AMT
Sci Total Environ
2024 Dec 1;954:176354.
Epub 2024 Sep 19
doi: 10.1016/j.scitotenv.2024.176354.
PMID: 39304165
Cohen SY,
Mrejen S,
Nghiem-Buffet S,
Dubois L,
Fajnkuchen F,
Gaudric A
Ophthalmol Retina
2021 Jun;5(6):553-561.
Epub 2020 Sep 30
doi: 10.1016/j.oret.2020.09.018.
PMID: 33007522
Dawe RS,
Ibbotson SH
Dermatol Clin
2014 Jul;32(3):363-8, ix.
doi: 10.1016/j.det.2014.03.014.
PMID: 24891058
Emerson GG,
Spencer GR,
Klein ML
Retina
2007 Jun;27(5):595-600.
doi: 10.1097/01.iae.0000243068.68099.b4.
PMID: 17558322
Vassileva SG,
Mateev G,
Parish LC
Arch Intern Med
1998 Oct 12;158(18):1993-2000.
doi: 10.1001/archinte.158.18.1993.
PMID: 9778198
Clinical prediction guides
Sibaud V
J Eur Acad Dermatol Venereol
2022 Jun;36 Suppl 6(Suppl 6):51-58.
doi: 10.1111/jdv.18200.
PMID: 35738806Free PMC Article
Wu J,
Lu Z,
Jiang D,
Guo Y,
Qiao H,
Zhang Y,
Zhu T,
Cai Y,
Zhang X,
Zhanghao K,
Xie H,
Yan T,
Zhang G,
Li X,
Jiang Z,
Lin X,
Fang L,
Zhou B,
Xi P,
Fan J,
Yu L,
Dai Q
Cell
2021 Jun 10;184(12):3318-3332.e17.
Epub 2021 May 25
doi: 10.1016/j.cell.2021.04.029.
PMID: 34038702
Cohen SY,
Mrejen S,
Nghiem-Buffet S,
Dubois L,
Fajnkuchen F,
Gaudric A
Ophthalmol Retina
2021 Jun;5(6):553-561.
Epub 2020 Sep 30
doi: 10.1016/j.oret.2020.09.018.
PMID: 33007522
Lawrenson JG,
Hull CC,
Downie LE
Ophthalmic Physiol Opt
2017 Nov;37(6):644-654.
doi: 10.1111/opo.12406.
PMID: 29044670
Savitski MM,
Reinhard FB,
Franken H,
Werner T,
Savitski MF,
Eberhard D,
Martinez Molina D,
Jafari R,
Dovega RB,
Klaeger S,
Kuster B,
Nordlund P,
Bantscheff M,
Drewes G
Science
2014 Oct 3;346(6205):1255784.
Epub 2014 Oct 2
doi: 10.1126/science.1255784.
PMID: 25278616