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Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome

MedGen UID:
501657
Concept ID:
C3501249
Disease or Syndrome

Recent clinical studies

Etiology

Yurchenco PD, Kulczyk AW
J Biol Chem 2024 Jul;300(7):107429. Epub 2024 Jun 1 doi: 10.1016/j.jbc.2024.107429. PMID: 38825010Free PMC Article
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K
BMC Nephrol 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. PMID: 32838745Free PMC Article
Niaudet P
Nat Rev Nephrol 2010 Dec;6(12):736-43. Epub 2010 Sep 28 doi: 10.1038/nrneph.2010.122. PMID: 20877305
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I
Am J Ophthalmol 2008 Oct;146(4):602-611. Epub 2008 Jul 31 doi: 10.1016/j.ajo.2008.05.039. PMID: 18672223

Diagnosis

ALKhamees A, ALShemmari M
BMC Ophthalmol 2023 Feb 24;23(1):76. doi: 10.1186/s12886-023-02826-3. PMID: 36829142Free PMC Article
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K
BMC Nephrol 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. PMID: 32838745Free PMC Article
Lusco MA, Najafian B, Alpers CE, Fogo AB
Am J Kidney Dis 2018 Apr;71(4):e3-e4. doi: 10.1053/j.ajkd.2018.02.001. PMID: 29579420
Liapis H
Pediatr Dev Pathol 2008 Jul-Aug;11(4):154-63. doi: 10.2350/07-11-0375.1. PMID: 18462046

Therapy

Paiz F, Alawneh I, Nigro E, Gonorazky HD
Neuromuscul Disord 2024 Jun;39:30-32. Epub 2024 Mar 22 doi: 10.1016/j.nmd.2024.03.007. PMID: 38723581
Magliyah MS, Alsulaiman SM
Ophthalmic Genet 2021 Jun;42(3):317-319. Epub 2021 Feb 8 doi: 10.1080/13816810.2021.1881982. PMID: 33554690
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K
BMC Nephrol 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. PMID: 32838745Free PMC Article
Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ
Pediatr Nephrol 2012 May;27(5):865-8. Epub 2012 Jan 8 doi: 10.1007/s00467-011-2088-2. PMID: 22228401
Ozaltin F, Heeringa S, Poyraz CE, Bilginer Y, Kadayifcilar S, Besbas N, Topaloglu R, Ozen S, Hildebrandt F, Bakkaloglu A
Pediatr Nephrol 2008 Mar;23(3):421-7. Epub 2007 Dec 5 doi: 10.1007/s00467-007-0695-8. PMID: 18058136

Prognosis

Sobieszczańska-Droździel A, Grenda R, Lipska-Ziętkiewicz BS, Korolczuk A, Jarmużek W, Sikora P
Nephron 2021;145(5):579-584. Epub 2021 May 31 doi: 10.1159/000516247. PMID: 34058744
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Kulali F, Calkavur S, Basaran C, Serdaroglu E, Kose M, Saka Guvenc M
Arch Argent Pediatr 2020 Jun;118(3):e288-e291. doi: 10.5546/aap.2020.eng.e288. PMID: 32470267
Wühl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T, Wendler O, Lesniewska I, Bouvier R, Reis A, Weis J, Cochat P, Zenker M
Am J Med Genet A 2007 Feb 15;143(4):311-9. doi: 10.1002/ajmg.a.31564. PMID: 17256789
Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM
Am J Med Genet A 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. PMID: 15372515

Clinical prediction guides

AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Funk SD, Bayer RH, Malone AF, McKee KK, Yurchenco PD, Miner JH
J Am Soc Nephrol 2018 Mar;29(3):949-960. Epub 2017 Dec 20 doi: 10.1681/ASN.2017090997. PMID: 29263159Free PMC Article
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I
Am J Ophthalmol 2008 Oct;146(4):602-611. Epub 2008 Jul 31 doi: 10.1016/j.ajo.2008.05.039. PMID: 18672223
Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM
Am J Med Genet A 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. PMID: 15372515
Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A
Hum Mol Genet 2004 Nov 1;13(21):2625-32. Epub 2004 Sep 14 doi: 10.1093/hmg/ddh284. PMID: 15367484

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