Etiology
Al Saadi T,
Assaf Y,
Farwati M,
Turkmani K,
Al-Mouakeh A,
Shebli B,
Khoja M,
Essali A,
Madmani ME
Cochrane Database Syst Rev
2021 Feb 3;(2)(2):CD008684.
doi: 10.1002/14651858.CD008684.pub3.
PMID: 35608922Free PMC Article
Berenguel Hernández AM,
de la Cruz M,
Alcázar-Fabra M,
Prieto-Rodríguez A,
Sánchez-Cuesta A,
Martin J,
Tormo JR,
Rodríguez-Aguilera JC,
Cortés-Rodríguez AB,
Navas P,
Reyes F,
Vicente F,
Genilloud O,
Santos-Ocaña C
SLAS Discov
2020 Mar;25(3):299-309.
Epub 2019 Nov 21
doi: 10.1177/2472555219877185.
PMID: 31751168
Cerqua C,
Casarin A,
Pierrel F,
Vazquez Fonseca L,
Viola G,
Salviati L,
Trevisson E
Sci Rep
2019 Apr 25;9(1):6553.
doi: 10.1038/s41598-019-43014-y.
PMID: 31024065Free PMC Article
Alcázar-Fabra M,
Trevisson E,
Brea-Calvo G
Essays Biochem
2018 Jul 20;62(3):377-398.
doi: 10.1042/EBC20170107.
PMID: 30030365
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
Sonuç Kartal G,
Koç Yekedüz M,
Köse E,
Eminoğlu FT
J Pediatr Endocrinol Metab
2024 Mar 25;37(3):260-270.
Epub 2024 Feb 2
doi: 10.1515/jpem-2023-0490.
PMID: 38353291
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
Alcázar-Fabra M,
Trevisson E,
Brea-Calvo G
Essays Biochem
2018 Jul 20;62(3):377-398.
doi: 10.1042/EBC20170107.
PMID: 30030365
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
Al Saadi T,
Assaf Y,
Farwati M,
Turkmani K,
Al-Mouakeh A,
Shebli B,
Khoja M,
Essali A,
Madmani ME
Cochrane Database Syst Rev
2021 Feb 3;(2)(2):CD008684.
doi: 10.1002/14651858.CD008684.pub3.
PMID: 35608922Free PMC Article
Herebian D,
López LC,
Distelmaier F
Mol Genet Metab
2018 Mar;123(3):289-291.
Epub 2017 Dec 9
doi: 10.1016/j.ymgme.2017.12.008.
PMID: 29246431
Madmani ME,
Yusuf Solaiman A,
Tamr Agha K,
Madmani Y,
Shahrour Y,
Essali A,
Kadro W
Cochrane Database Syst Rev
2014 Jun 2;(6):CD008684.
doi: 10.1002/14651858.CD008684.pub2.
PMID: 24049047
Potgieter M,
Pretorius E,
Pepper MS
Nutr Rev
2013 Mar;71(3):180-8.
Epub 2013 Jan 30
doi: 10.1111/nure.12011.
PMID: 23452285
Ho MJ,
Bellusci A,
Wright JM
Cochrane Database Syst Rev
2009 Oct 7;(4):CD007435.
doi: 10.1002/14651858.CD007435.pub2.
PMID: 19821418
Prognosis
Değerliyurt A,
Gülleroğlu NB,
Kibar Gül AE
Int J Neurosci
2024 Jun;134(2):148-152.
Epub 2022 Jul 4
doi: 10.1080/00207454.2022.2095269.
PMID: 35757998
Olgac A,
Öztoprak Ü,
Kasapkara ÇS,
Kılıç M,
Yüksel D,
Derinkuyu EB,
Taşçı Yıldız Y,
Ceylaner S,
Ezgu FS
J Pediatr Endocrinol Metab
2020 Jan 28;33(1):165-170.
doi: 10.1515/jpem-2019-0245.
PMID: 31821167
Krygier M,
Kwarciany M,
Wasilewska K,
Pienkowski VM,
Krawczyńska N,
Zielonka D,
Kosińska J,
Stawinski P,
Rudzińska-Bar M,
Boczarska-Jedynak M,
Karaszewski B,
Limon J,
Sławek J,
Płoski R,
Rydzanicz M
Clin Genet
2019 Mar;95(3):415-419.
Epub 2019 Jan 8
doi: 10.1111/cge.13489.
PMID: 30548255
Iványi B,
Rácz GZ,
Gál P,
Brinyiczki K,
Bódi I,
Kalmár T,
Maróti Z,
Bereczki C
Pediatr Nephrol
2018 Mar;33(3):439-446.
Epub 2017 Oct 14
doi: 10.1007/s00467-017-3814-1.
PMID: 29032433
Clinical prediction guides
Fabra MA,
Paredes-Fuentes AJ,
Torralba Carnerero M,
Moreno Férnandez de Ayala DJ,
Arroyo Luque A,
Sánchez Cuesta A,
Staiano C,
Sanchez-Pintos P,
Luz Couce M,
Tomás M,
Marco-Hernández AV,
Orellana C,
Martínez F,
Roselló M,
Caro A,
Oltra Soler JS,
Monfort S,
Sánchez A,
Rausell D,
Vitoria I,
Del Toro M,
Garcia-Cazorla A,
Julia-Palacios NA,
Jou C,
Yubero D,
López LC,
Hernández Camacho JD,
López Lluch G,
Ballesteros Simarro M,
Rodríguez Aguilera JC,
Calvo GB,
Cascajo Almenara MV,
Artuch R,
Santos-Ocaña C
J Inherit Metab Dis
2024 Sep;47(5):1047-1068.
Epub 2024 Jul 8
doi: 10.1002/jimd.12776.
PMID: 38973597
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
Olgac A,
Öztoprak Ü,
Kasapkara ÇS,
Kılıç M,
Yüksel D,
Derinkuyu EB,
Taşçı Yıldız Y,
Ceylaner S,
Ezgu FS
J Pediatr Endocrinol Metab
2020 Jan 28;33(1):165-170.
doi: 10.1515/jpem-2019-0245.
PMID: 31821167
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