Etiology
da Silva IV,
Soveral G
Adv Exp Med Biol
2023;1398:289-302.
doi: 10.1007/978-981-19-7415-1_20.
PMID: 36717502
Liu S,
Gui Y,
Wang MS,
Zhang L,
Xu T,
Pan Y,
Zhang K,
Yu Y,
Xiao L,
Qiao Y,
Bonin C,
Hargis G,
Huan T,
Yu Y,
Tao J,
Zhang R,
Kreutzer DL,
Zhou Y,
Tian XJ,
Wang Y,
Fu H,
An X,
Liu S,
Zhou D
Mol Metab
2021 Dec;54:101367.
Epub 2021 Nov 1
doi: 10.1016/j.molmet.2021.101367.
PMID: 34737094Free PMC Article
Chen LR,
Chen KH
Int J Mol Sci
2021 Mar 22;22(6)
doi: 10.3390/ijms22063212.
PMID: 33809928Free PMC Article
Manciu S,
Matei E,
Trandafir B
Chirurgia (Bucur)
2017 Mar-Apr;112(2):110-116.
doi: 10.21614/chirurgia.112.2.110.
PMID: 28463670
da Silva IV,
Soveral G
Adv Exp Med Biol
2017;969:227-238.
doi: 10.1007/978-94-024-1057-0_15.
PMID: 28258577
Diagnosis
Liu S,
Gui Y,
Wang MS,
Zhang L,
Xu T,
Pan Y,
Zhang K,
Yu Y,
Xiao L,
Qiao Y,
Bonin C,
Hargis G,
Huan T,
Yu Y,
Tao J,
Zhang R,
Kreutzer DL,
Zhou Y,
Tian XJ,
Wang Y,
Fu H,
An X,
Liu S,
Zhou D
Mol Metab
2021 Dec;54:101367.
Epub 2021 Nov 1
doi: 10.1016/j.molmet.2021.101367.
PMID: 34737094Free PMC Article
Häberle J,
Burlina A,
Chakrapani A,
Dixon M,
Karall D,
Lindner M,
Mandel H,
Martinelli D,
Pintos-Morell G,
Santer R,
Skouma A,
Servais A,
Tal G,
Rubio V,
Huemer M,
Dionisi-Vici C
J Inherit Metab Dis
2019 Nov;42(6):1192-1230.
Epub 2019 May 15
doi: 10.1002/jimd.12100.
PMID: 30982989
Manciu S,
Matei E,
Trandafir B
Chirurgia (Bucur)
2017 Mar-Apr;112(2):110-116.
doi: 10.21614/chirurgia.112.2.110.
PMID: 28463670
Jirsova K,
Jones GLA
Cell Tissue Bank
2017 Jun;18(2):193-204.
Epub 2017 Mar 2
doi: 10.1007/s10561-017-9618-5.
PMID: 28255771
Wang S,
Moustaid-Moussa N,
Chen L,
Mo H,
Shastri A,
Su R,
Bapat P,
Kwun I,
Shen CL
J Nutr Biochem
2014 Jan;25(1):1-18.
doi: 10.1016/j.jnutbio.2013.09.001.
PMID: 24314860Free PMC Article
Therapy
Liu S,
Gui Y,
Wang MS,
Zhang L,
Xu T,
Pan Y,
Zhang K,
Yu Y,
Xiao L,
Qiao Y,
Bonin C,
Hargis G,
Huan T,
Yu Y,
Tao J,
Zhang R,
Kreutzer DL,
Zhou Y,
Tian XJ,
Wang Y,
Fu H,
An X,
Liu S,
Zhou D
Mol Metab
2021 Dec;54:101367.
Epub 2021 Nov 1
doi: 10.1016/j.molmet.2021.101367.
PMID: 34737094Free PMC Article
Chen LR,
Chen KH
Int J Mol Sci
2021 Mar 22;22(6)
doi: 10.3390/ijms22063212.
PMID: 33809928Free PMC Article
Wang S,
Moustaid-Moussa N,
Chen L,
Mo H,
Shastri A,
Su R,
Bapat P,
Kwun I,
Shen CL
J Nutr Biochem
2014 Jan;25(1):1-18.
doi: 10.1016/j.jnutbio.2013.09.001.
PMID: 24314860Free PMC Article
Croze ML,
Soulage CO
Biochimie
2013 Oct;95(10):1811-27.
Epub 2013 Jun 10
doi: 10.1016/j.biochi.2013.05.011.
PMID: 23764390
Fluhr JW,
Darlenski R,
Surber C
Br J Dermatol
2008 Jul;159(1):23-34.
Epub 2008 Jul 1
doi: 10.1111/j.1365-2133.2008.08643.x.
PMID: 18510666
Prognosis
Scharre S,
Posset R,
Garbade SF,
Gleich F,
Seidl MJ,
Druck AC,
Okun JG,
Gropman AL,
Nagamani SCS,
Hoffmann GF,
Kölker S,
Zielonka M;
Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol
2022 Nov;9(11):1715-1726.
Epub 2022 Oct 10
doi: 10.1002/acn3.51668.
PMID: 36217298Free PMC Article
Liu S,
Gui Y,
Wang MS,
Zhang L,
Xu T,
Pan Y,
Zhang K,
Yu Y,
Xiao L,
Qiao Y,
Bonin C,
Hargis G,
Huan T,
Yu Y,
Tao J,
Zhang R,
Kreutzer DL,
Zhou Y,
Tian XJ,
Wang Y,
Fu H,
An X,
Liu S,
Zhou D
Mol Metab
2021 Dec;54:101367.
Epub 2021 Nov 1
doi: 10.1016/j.molmet.2021.101367.
PMID: 34737094Free PMC Article
Yadav E,
Yadav N,
Hus A,
Yadav JS
Respir Med
2020 Nov-Dec;174:106193.
Epub 2020 Oct 17
doi: 10.1016/j.rmed.2020.106193.
PMID: 33096317Free PMC Article
Zielonka M,
Kölker S,
Gleich F,
Stützenberger N,
Nagamani SCS,
Gropman AL,
Hoffmann GF,
Garbade SF,
Posset R;
Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol
2019 Sep;6(9):1858-1871.
Epub 2019 Aug 30
doi: 10.1002/acn3.50886.
PMID: 31469252Free PMC Article
Possik E,
Madiraju SRM,
Prentki M
Biochimie
2017 Dec;143:18-28.
Epub 2017 Aug 5
doi: 10.1016/j.biochi.2017.08.001.
PMID: 28826615
Clinical prediction guides
Luukkonen PK,
Qadri S,
Ahlholm N,
Porthan K,
Männistö V,
Sammalkorpi H,
Penttilä AK,
Hakkarainen A,
Lehtimäki TE,
Gaggini M,
Gastaldelli A,
Ala-Korpela M,
Orho-Melander M,
Arola J,
Juuti A,
Pihlajamäki J,
Hodson L,
Yki-Järvinen H
J Hepatol
2022 Mar;76(3):526-535.
Epub 2021 Oct 25
doi: 10.1016/j.jhep.2021.10.013.
PMID: 34710482Free PMC Article
Liu S,
Gui Y,
Wang MS,
Zhang L,
Xu T,
Pan Y,
Zhang K,
Yu Y,
Xiao L,
Qiao Y,
Bonin C,
Hargis G,
Huan T,
Yu Y,
Tao J,
Zhang R,
Kreutzer DL,
Zhou Y,
Tian XJ,
Wang Y,
Fu H,
An X,
Liu S,
Zhou D
Mol Metab
2021 Dec;54:101367.
Epub 2021 Nov 1
doi: 10.1016/j.molmet.2021.101367.
PMID: 34737094Free PMC Article
Bollag WB,
Aitkens L,
White J,
Hyndman KA
Am J Physiol Cell Physiol
2020 Jun 1;318(6):C1144-C1153.
Epub 2020 Apr 8
doi: 10.1152/ajpcell.00075.2020.
PMID: 32267715Free PMC Article
Guasch-Ferré M,
Santos JL,
Martínez-González MA,
Clish CB,
Razquin C,
Wang D,
Liang L,
Li J,
Dennis C,
Corella D,
Muñoz-Bravo C,
Romaguera D,
Estruch R,
Santos-Lozano JM,
Castañer O,
Alonso-Gómez A,
Serra-Majem L,
Ros E,
Canudas S,
Asensio EM,
Fitó M,
Pierce K,
Martínez JA,
Salas-Salvadó J,
Toledo E,
Hu FB,
Ruiz-Canela M
Am J Clin Nutr
2020 Apr 1;111(4):835-844.
doi: 10.1093/ajcn/nqaa016.
PMID: 32060497Free PMC Article
Zielonka M,
Kölker S,
Gleich F,
Stützenberger N,
Nagamani SCS,
Gropman AL,
Hoffmann GF,
Garbade SF,
Posset R;
Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol
2019 Sep;6(9):1858-1871.
Epub 2019 Aug 30
doi: 10.1002/acn3.50886.
PMID: 31469252Free PMC Article