Etiology
Nam DW,
Park SS,
Lee SM,
Suh MW,
Park MK,
Song JJ,
Choi BY,
Lee JH,
Oh SH,
Moon KC,
Ahn YH,
Kang HG,
Cheong HI,
Kim JH,
Lee SY
Biomed Res Int
2022;2022:5250254.
Epub 2022 Sep 9
doi: 10.1155/2022/5250254.
PMID: 36124066Free PMC Article
Tasic V,
Gucev Z,
Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
2015;36(3):5-12.
doi: 10.1515/prilozi-2015-0073.
PMID: 27442391
Desbats MA,
Lunardi G,
Doimo M,
Trevisson E,
Salviati L
J Inherit Metab Dis
2015 Jan;38(1):145-56.
Epub 2014 Aug 5
doi: 10.1007/s10545-014-9749-9.
PMID: 25091424
Diagnosis
Nam DW,
Park SS,
Lee SM,
Suh MW,
Park MK,
Song JJ,
Choi BY,
Lee JH,
Oh SH,
Moon KC,
Ahn YH,
Kang HG,
Cheong HI,
Kim JH,
Lee SY
Biomed Res Int
2022;2022:5250254.
Epub 2022 Sep 9
doi: 10.1155/2022/5250254.
PMID: 36124066Free PMC Article
Drovandi S,
Lipska-Ziętkiewicz BS,
Ozaltin F,
Emma F,
Gulhan B,
Boyer O,
Trautmann A,
Xu H,
Shen Q,
Rao J,
Riedhammer KM,
Heemann U,
Hoefele J,
Stenton SL,
Tsygin AN,
Ng KH,
Fomina S,
Benetti E,
Aurelle M,
Prikhodina L,
Schreuder MF,
Tabatabaeifar M,
Jankowski M,
Baiko S,
Mao J,
Feng C,
Liu C,
Sun S,
Deng F,
Wang X,
Clavé S,
Stańczyk M,
Bałasz-Chmielewska I,
Fila M,
Durkan AM,
Levart TK,
Dursun I,
Esfandiar N,
Haas D,
Bjerre A,
Anarat A,
Benz MR,
Talebi S,
Hooman N,
Ariceta G;
PodoNet Consortium;
mitoNET Consortium;
CCGKDD Consortium,
Schaefer F
Kidney Int
2022 Sep;102(3):604-612.
Epub 2022 May 25
doi: 10.1016/j.kint.2022.04.029.
PMID: 35643375
Drovandi S,
Lipska-Ziętkiewicz BS,
Ozaltin F,
Emma F,
Gulhan B,
Boyer O,
Trautmann A,
Ziętkiewicz S,
Xu H,
Shen Q,
Rao J,
Riedhammer KM,
Heemann U,
Hoefele J,
Stenton SL,
Tsygin AN,
Ng KH,
Fomina S,
Benetti E,
Aurelle M,
Prikhodina L,
Schijvens AM,
Tabatabaeifar M,
Jankowski M,
Baiko S,
Mao J,
Feng C,
Deng F,
Rousset-Rouviere C,
Stańczyk M,
Bałasz-Chmielewska I,
Fila M,
Durkan AM,
Levart TK,
Dursun I,
Esfandiar N,
Haas D,
Bjerre A,
Anarat A,
Benz MR,
Talebi S,
Hooman N,
Ariceta G;
PodoNet Consortium;
mitoNET Consortium;
CCGKDD Consortium,
Schaefer F
Kidney Int
2022 Sep;102(3):592-603.
Epub 2022 Apr 26
doi: 10.1016/j.kint.2022.02.040.
PMID: 35483523
Tasic V,
Gucev Z,
Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
2015;36(3):5-12.
doi: 10.1515/prilozi-2015-0073.
PMID: 27442391
Desbats MA,
Lunardi G,
Doimo M,
Trevisson E,
Salviati L
J Inherit Metab Dis
2015 Jan;38(1):145-56.
Epub 2014 Aug 5
doi: 10.1007/s10545-014-9749-9.
PMID: 25091424
Therapy
Drovandi S,
Lipska-Ziętkiewicz BS,
Ozaltin F,
Emma F,
Gulhan B,
Boyer O,
Trautmann A,
Xu H,
Shen Q,
Rao J,
Riedhammer KM,
Heemann U,
Hoefele J,
Stenton SL,
Tsygin AN,
Ng KH,
Fomina S,
Benetti E,
Aurelle M,
Prikhodina L,
Schreuder MF,
Tabatabaeifar M,
Jankowski M,
Baiko S,
Mao J,
Feng C,
Liu C,
Sun S,
Deng F,
Wang X,
Clavé S,
Stańczyk M,
Bałasz-Chmielewska I,
Fila M,
Durkan AM,
Levart TK,
Dursun I,
Esfandiar N,
Haas D,
Bjerre A,
Anarat A,
Benz MR,
Talebi S,
Hooman N,
Ariceta G;
PodoNet Consortium;
mitoNET Consortium;
CCGKDD Consortium,
Schaefer F
Kidney Int
2022 Sep;102(3):604-612.
Epub 2022 May 25
doi: 10.1016/j.kint.2022.04.029.
PMID: 35643375
Ashraf S,
Gee HY,
Woerner S,
Xie LX,
Vega-Warner V,
Lovric S,
Fang H,
Song X,
Cattran DC,
Avila-Casado C,
Paterson AD,
Nitschké P,
Bole-Feysot C,
Cochat P,
Esteve-Rudd J,
Haberberger B,
Allen SJ,
Zhou W,
Airik R,
Otto EA,
Barua M,
Al-Hamed MH,
Kari JA,
Evans J,
Bierzynska A,
Saleem MA,
Böckenhauer D,
Kleta R,
El Desoky S,
Hacihamdioglu DO,
Gok F,
Washburn J,
Wiggins RC,
Choi M,
Lifton RP,
Levy S,
Han Z,
Salviati L,
Prokisch H,
Williams DS,
Pollak M,
Clarke CF,
Pei Y,
Antignac C,
Hildebrandt F
J Clin Invest
2013 Dec;123(12):5179-89.
Epub 2013 Nov 25
doi: 10.1172/JCI69000.
PMID: 24270420Free PMC Article
Prognosis
Fareed M,
Makkar V,
Angral R,
Afzal M,
Singh G
Sci Rep
2021 Jun 25;11(1):13337.
doi: 10.1038/s41598-021-92023-3.
PMID: 34172776Free PMC Article
Tasic V,
Gucev Z,
Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
2015;36(3):5-12.
doi: 10.1515/prilozi-2015-0073.
PMID: 27442391
Clinical prediction guides
Drovandi S,
Lipska-Ziętkiewicz BS,
Ozaltin F,
Emma F,
Gulhan B,
Boyer O,
Trautmann A,
Xu H,
Shen Q,
Rao J,
Riedhammer KM,
Heemann U,
Hoefele J,
Stenton SL,
Tsygin AN,
Ng KH,
Fomina S,
Benetti E,
Aurelle M,
Prikhodina L,
Schreuder MF,
Tabatabaeifar M,
Jankowski M,
Baiko S,
Mao J,
Feng C,
Liu C,
Sun S,
Deng F,
Wang X,
Clavé S,
Stańczyk M,
Bałasz-Chmielewska I,
Fila M,
Durkan AM,
Levart TK,
Dursun I,
Esfandiar N,
Haas D,
Bjerre A,
Anarat A,
Benz MR,
Talebi S,
Hooman N,
Ariceta G;
PodoNet Consortium;
mitoNET Consortium;
CCGKDD Consortium,
Schaefer F
Kidney Int
2022 Sep;102(3):604-612.
Epub 2022 May 25
doi: 10.1016/j.kint.2022.04.029.
PMID: 35643375
Drovandi S,
Lipska-Ziętkiewicz BS,
Ozaltin F,
Emma F,
Gulhan B,
Boyer O,
Trautmann A,
Ziętkiewicz S,
Xu H,
Shen Q,
Rao J,
Riedhammer KM,
Heemann U,
Hoefele J,
Stenton SL,
Tsygin AN,
Ng KH,
Fomina S,
Benetti E,
Aurelle M,
Prikhodina L,
Schijvens AM,
Tabatabaeifar M,
Jankowski M,
Baiko S,
Mao J,
Feng C,
Deng F,
Rousset-Rouviere C,
Stańczyk M,
Bałasz-Chmielewska I,
Fila M,
Durkan AM,
Levart TK,
Dursun I,
Esfandiar N,
Haas D,
Bjerre A,
Anarat A,
Benz MR,
Talebi S,
Hooman N,
Ariceta G;
PodoNet Consortium;
mitoNET Consortium;
CCGKDD Consortium,
Schaefer F
Kidney Int
2022 Sep;102(3):592-603.
Epub 2022 Apr 26
doi: 10.1016/j.kint.2022.02.040.
PMID: 35483523
Fareed M,
Makkar V,
Angral R,
Afzal M,
Singh G
Sci Rep
2021 Jun 25;11(1):13337.
doi: 10.1038/s41598-021-92023-3.
PMID: 34172776Free PMC Article
Tasic V,
Gucev Z,
Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
2015;36(3):5-12.
doi: 10.1515/prilozi-2015-0073.
PMID: 27442391
Desbats MA,
Lunardi G,
Doimo M,
Trevisson E,
Salviati L
J Inherit Metab Dis
2015 Jan;38(1):145-56.
Epub 2014 Aug 5
doi: 10.1007/s10545-014-9749-9.
PMID: 25091424