Etiology
Wang J,
Li S,
Jiang Y,
Wang Y,
Ouyang J,
Yi Z,
Sun W,
Jia X,
Xiao X,
Wang P,
Zhang Q
Am J Ophthalmol
2023 Aug;252:188-204.
Epub 2023 Mar 27
doi: 10.1016/j.ajo.2023.03.025.
PMID: 36990420
Rao J,
Liu X,
Mao J,
Tang X,
Shen Q,
Li G,
Sun L,
Bi Y,
Wang X,
Qian Y,
Wu B,
Wang H,
Zhou W,
Ma D,
Zheng B,
Shen Y,
Chen Z,
Luan J,
Wang X,
Wang M,
Dang X,
Wang Y,
Wu Y,
Hou L,
Sun S,
Li Q,
Liu X,
Bai H,
Yang Y,
Shao X,
Li Y,
Zheng S,
Han M,
Liu C,
Cao G,
Zhao L,
Qiu S,
Dong Y,
Zhu Y,
Wang F,
Zhang D,
Li Y,
Zhao L,
Yang C,
Luo X,
Chen L,
Jiang X,
Zhang A,
Xu H;
for “Internet Plus” Nephrology Alliance of National Center for Children's Care
Clin Genet
2019 Nov;96(5):402-410.
Epub 2019 Jul 25
doi: 10.1111/cge.13606.
PMID: 31328266
König J,
Kranz B,
König S,
Schlingmann KP,
Titieni A,
Tönshoff B,
Habbig S,
Pape L,
Häffner K,
Hansen M,
Büscher A,
Bald M,
Billing H,
Schild R,
Walden U,
Hampel T,
Staude H,
Riedl M,
Gretz N,
Lablans M,
Bergmann C,
Hildebrandt F,
Omran H,
Konrad M;
Gesellschaft für Pädiatrische Nephrologie (GPN)
Clin J Am Soc Nephrol
2017 Dec 7;12(12):1974-1983.
Epub 2017 Nov 16
doi: 10.2215/CJN.01280217.
PMID: 29146700Free PMC Article
Mariman EC,
Vink RG,
Roumans NJ,
Bouwman FG,
Stumpel CT,
Aller EE,
van Baak MA,
Wang P
Br J Nutr
2016 Aug;116(4):576-92.
Epub 2016 Jun 20
doi: 10.1017/S0007114516002282.
PMID: 27323230
Halbritter J,
Porath JD,
Diaz KA,
Braun DA,
Kohl S,
Chaki M,
Allen SJ,
Soliman NA,
Hildebrandt F,
Otto EA;
GPN Study Group
Hum Genet
2013 Aug;132(8):865-84.
Epub 2013 Apr 5
doi: 10.1007/s00439-013-1297-0.
PMID: 23559409Free PMC Article
Diagnosis
Leggatt GP,
Seaby EG,
Veighey K,
Gast C,
Gilbert RD,
Ennis S
Genes (Basel)
2023 Aug 3;14(8)
doi: 10.3390/genes14081582.
PMID: 37628633Free PMC Article
Rao J,
Liu X,
Mao J,
Tang X,
Shen Q,
Li G,
Sun L,
Bi Y,
Wang X,
Qian Y,
Wu B,
Wang H,
Zhou W,
Ma D,
Zheng B,
Shen Y,
Chen Z,
Luan J,
Wang X,
Wang M,
Dang X,
Wang Y,
Wu Y,
Hou L,
Sun S,
Li Q,
Liu X,
Bai H,
Yang Y,
Shao X,
Li Y,
Zheng S,
Han M,
Liu C,
Cao G,
Zhao L,
Qiu S,
Dong Y,
Zhu Y,
Wang F,
Zhang D,
Li Y,
Zhao L,
Yang C,
Luo X,
Chen L,
Jiang X,
Zhang A,
Xu H;
for “Internet Plus” Nephrology Alliance of National Center for Children's Care
Clin Genet
2019 Nov;96(5):402-410.
Epub 2019 Jul 25
doi: 10.1111/cge.13606.
PMID: 31328266
Kang HG,
Lee HK,
Ahn YH,
Joung JG,
Nam J,
Kim NK,
Ko JM,
Cho MH,
Shin JI,
Kim J,
Park HW,
Park YS,
Ha IS,
Chung WY,
Lee DY,
Kim SY,
Park WY,
Cheong HI
Exp Mol Med
2016 Aug 5;48(8):e251.
doi: 10.1038/emm.2016.63.
PMID: 27491411Free PMC Article
Renkema KY,
Stokman MF,
Giles RH,
Knoers NV
Nat Rev Nephrol
2014 Aug;10(8):433-44.
Epub 2014 Jun 10
doi: 10.1038/nrneph.2014.95.
PMID: 24914583
Halbritter J,
Porath JD,
Diaz KA,
Braun DA,
Kohl S,
Chaki M,
Allen SJ,
Soliman NA,
Hildebrandt F,
Otto EA;
GPN Study Group
Hum Genet
2013 Aug;132(8):865-84.
Epub 2013 Apr 5
doi: 10.1007/s00439-013-1297-0.
PMID: 23559409Free PMC Article
Therapy
Gjerstad AC,
Skrunes R,
Tøndel C,
Åsberg A,
Leh S,
Klingenberg C,
Døllner H,
Hammarstrøm C,
Bjerre AK
Pediatr Nephrol
2023 Apr;38(4):1249-1256.
Epub 2022 Aug 22
doi: 10.1007/s00467-022-05706-y.
PMID: 35994104Free PMC Article
Avcı B,
Baskın E,
Gülleroğlu K,
Çaltık Yılmaz A,
Kantar A,
Akdur A,
Moray G,
Haberal M
Exp Clin Transplant
2022 May;20(Suppl 3):122-125.
doi: 10.6002/ect.PediatricSymp2022.O39.
PMID: 35570616
Torres VE
Semin Nephrol
2008 May;28(3):306-17.
doi: 10.1016/j.semnephrol.2008.03.003.
PMID: 18519091Free PMC Article
Torres VE
Clin J Am Soc Nephrol
2008 Jul;3(4):1212-8.
Epub 2008 Apr 23
doi: 10.2215/CJN.05281107.
PMID: 18434616
Henriksson C,
Andersen HJ,
Gustafsson A,
Gelin LE
Acta Paediatr Scand
1975 Nov;64(6):833-8.
doi: 10.1111/j.1651-2227.1975.tb03933.x.
PMID: 171908
Prognosis
Avcı B,
Baskın E,
Gülleroğlu K,
Çaltık Yılmaz A,
Kantar A,
Akdur A,
Moray G,
Haberal M
Exp Clin Transplant
2022 May;20(Suppl 3):122-125.
doi: 10.6002/ect.PediatricSymp2022.O39.
PMID: 35570616
Chen IY,
Whitney-Miller CL,
Liao X
Diagn Pathol
2021 Aug 30;16(1):81.
doi: 10.1186/s13000-021-01142-y.
PMID: 34461951Free PMC Article
Fleming LR,
Doherty DA,
Parisi MA,
Glass IA,
Bryant J,
Fischer R,
Turkbey B,
Choyke P,
Daryanani K,
Vemulapalli M,
Mullikin JC,
Malicdan MC,
Vilboux T,
Sayer JA,
Gahl WA,
Gunay-Aygun M
Clin J Am Soc Nephrol
2017 Dec 7;12(12):1962-1973.
Epub 2017 Nov 16
doi: 10.2215/CJN.05660517.
PMID: 29146704Free PMC Article
König J,
Kranz B,
König S,
Schlingmann KP,
Titieni A,
Tönshoff B,
Habbig S,
Pape L,
Häffner K,
Hansen M,
Büscher A,
Bald M,
Billing H,
Schild R,
Walden U,
Hampel T,
Staude H,
Riedl M,
Gretz N,
Lablans M,
Bergmann C,
Hildebrandt F,
Omran H,
Konrad M;
Gesellschaft für Pädiatrische Nephrologie (GPN)
Clin J Am Soc Nephrol
2017 Dec 7;12(12):1974-1983.
Epub 2017 Nov 16
doi: 10.2215/CJN.01280217.
PMID: 29146700Free PMC Article
Soliman NA,
Hildebrandt F,
Otto EA,
Nabhan MM,
Allen SJ,
Badr AM,
Sheba M,
Fadda S,
Gawdat G,
El-Kiky H
Saudi J Kidney Dis Transpl
2012 Sep;23(5):1090-8.
doi: 10.4103/1319-2442.100968.
PMID: 22982934Free PMC Article
Clinical prediction guides
Wang J,
Li S,
Jiang Y,
Wang Y,
Ouyang J,
Yi Z,
Sun W,
Jia X,
Xiao X,
Wang P,
Zhang Q
Am J Ophthalmol
2023 Aug;252:188-204.
Epub 2023 Mar 27
doi: 10.1016/j.ajo.2023.03.025.
PMID: 36990420
König J,
Kranz B,
König S,
Schlingmann KP,
Titieni A,
Tönshoff B,
Habbig S,
Pape L,
Häffner K,
Hansen M,
Büscher A,
Bald M,
Billing H,
Schild R,
Walden U,
Hampel T,
Staude H,
Riedl M,
Gretz N,
Lablans M,
Bergmann C,
Hildebrandt F,
Omran H,
Konrad M;
Gesellschaft für Pädiatrische Nephrologie (GPN)
Clin J Am Soc Nephrol
2017 Dec 7;12(12):1974-1983.
Epub 2017 Nov 16
doi: 10.2215/CJN.01280217.
PMID: 29146700Free PMC Article
Mariman EC,
Vink RG,
Roumans NJ,
Bouwman FG,
Stumpel CT,
Aller EE,
van Baak MA,
Wang P
Br J Nutr
2016 Aug;116(4):576-92.
Epub 2016 Jun 20
doi: 10.1017/S0007114516002282.
PMID: 27323230
Salomon R,
Saunier S,
Niaudet P
Pediatr Nephrol
2009 Dec;24(12):2333-44.
Epub 2008 Jul 8
doi: 10.1007/s00467-008-0840-z.
PMID: 18607645Free PMC Article
Chance PF,
Cavalier L,
Satran D,
Pellegrino JE,
Koenig M,
Dobyns WB
J Child Neurol
1999 Oct;14(10):660-6; discussion 669-72.
doi: 10.1177/088307389901401007.
PMID: 10511339