Etiology
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
Teive HAG,
Camargo CHF,
Pereira ER,
Coutinho L,
Munhoz RP
Neurogenetics
2022 Jul;23(3):167-177.
Epub 2022 Apr 9
doi: 10.1007/s10048-022-00688-3.
PMID: 35397036
Rowe S,
Carr AC
Nutrients
2020 Jul 6;12(7)
doi: 10.3390/nu12072008.
PMID: 32640674Free PMC Article
Amarnani AA,
Poladian KR,
Marciano BE,
Daub JR,
Williams SG,
Livinski AA,
Hsu AP,
Palmer CL,
Kenney CM,
Avila DN,
Holland SM,
Katz JD
Sci Rep
2020 May 20;10(1):8305.
doi: 10.1038/s41598-020-64852-1.
PMID: 32433473Free PMC Article
Goudouris ES,
Segundo GRS,
Poli C
J Pediatr (Rio J)
2019 Mar-Apr;95 Suppl 1:49-58.
Epub 2018 Dec 26
doi: 10.1016/j.jped.2018.11.006.
PMID: 30593791
Diagnosis
Lo RS,
Cromie GA,
Tang M,
Teng K,
Owens K,
Sirr A,
Kutz JN,
Morizono H,
Caldovic L,
Ah Mew N,
Gropman A,
Dudley AM
Am J Hum Genet
2023 May 4;110(5):863-879.
doi: 10.1016/j.ajhg.2023.03.019.
PMID: 37146589Free PMC Article
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
Karissa P,
Simpson T,
Dawson SP,
Low TY,
Tay SH,
Nordin FDA,
Zain SM,
Lee PY,
Pung YF
Br J Biomed Sci
2022;79:10382.
Epub 2022 May 19
doi: 10.3389/bjbs.2022.10382.
PMID: 35996497Free PMC Article
Wood TC,
Harvey K,
Beck M,
Burin MG,
Chien YH,
Church HJ,
D'Almeida V,
van Diggelen OP,
Fietz M,
Giugliani R,
Harmatz P,
Hawley SM,
Hwu WL,
Ketteridge D,
Lukacs Z,
Miller N,
Pasquali M,
Schenone A,
Thompson JN,
Tylee K,
Yu C,
Hendriksz CJ
J Inherit Metab Dis
2013 Mar;36(2):293-307.
Epub 2013 Feb 1
doi: 10.1007/s10545-013-9587-1.
PMID: 23371450Free PMC Article
Wallace JC,
Jitrapakdee S,
Chapman-Smith A
Int J Biochem Cell Biol
1998 Jan;30(1):1-5.
doi: 10.1016/s1357-2725(97)00147-7.
PMID: 9597748
Therapy
Sakane EN,
Vieira MCC,
Vieira GMM,
Maeda SS
Arch Endocrinol Metab
2022 Nov 11;66(5):651-657.
doi: 10.20945/2359-3997000000554.
PMID: 36382754Free PMC Article
Karissa P,
Simpson T,
Dawson SP,
Low TY,
Tay SH,
Nordin FDA,
Zain SM,
Lee PY,
Pung YF
Br J Biomed Sci
2022;79:10382.
Epub 2022 May 19
doi: 10.3389/bjbs.2022.10382.
PMID: 35996497Free PMC Article
Smirnikhina SA
Curr Gene Ther
2022;22(5):386-396.
doi: 10.2174/1566523222666220720102556.
PMID: 35864800
Klimant E,
Wright H,
Rubin D,
Seely D,
Markman M
Curr Oncol
2018 Apr;25(2):139-148.
Epub 2018 Apr 30
doi: 10.3747/co.25.3790.
PMID: 29719430Free PMC Article
Brunskill NJ
J Intern Med
2017 Jan;281(1):41-51.
Epub 2016 Sep 19
doi: 10.1111/joim.12548.
PMID: 27640884
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
Firouzi M,
Sherkatolabbasieh H,
Shafizadeh S
Endocr Metab Immune Disord Drug Targets
2021;21(2):288-297.
doi: 10.2174/1871530320666200704144912.
PMID: 32621723
Amarnani AA,
Poladian KR,
Marciano BE,
Daub JR,
Williams SG,
Livinski AA,
Hsu AP,
Palmer CL,
Kenney CM,
Avila DN,
Holland SM,
Katz JD
Sci Rep
2020 May 20;10(1):8305.
doi: 10.1038/s41598-020-64852-1.
PMID: 32433473Free PMC Article
Faitelson Y,
Grunebaum E
Clin Immunol
2014 Nov;155(1):118-125.
Epub 2014 Sep 18
doi: 10.1016/j.clim.2014.09.008.
PMID: 25241079
Gleich GJ,
Klion AD,
Lee JJ,
Weller PF
Allergy
2013 Jul;68(7):829-35.
Epub 2013 Jun 6
doi: 10.1111/all.12169.
PMID: 23742015Free PMC Article
Clinical prediction guides
Lasio MLD,
Leshinski AC,
Ducich NH,
Flore LA,
Lehman A,
Shur N,
Jayakar PB,
Hainline BE,
Basinger AA,
Wilson WG,
Diaz GA,
Erbe RW,
Koeberl DD,
Vockley J,
Bedoyan JK
Mol Genet Metab
2023 Jun;139(2):107605.
Epub 2023 May 9
doi: 10.1016/j.ymgme.2023.107605.
PMID: 37207470Free PMC Article
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
Segundo GRS
J Pediatr (Rio J)
2021 Mar-Apr;97 Suppl 1(Suppl 1):S3-S9.
Epub 2020 Oct 26
doi: 10.1016/j.jped.2020.09.007.
PMID: 33121930Free PMC Article
Peng MZ,
Li XZ,
Mei HF,
Sheng HY,
Yin X,
Jiang MY,
Cai YN,
Su L,
Lin YT,
Shao YX,
Liu L
Clin Biochem
2020 Oct;84:63-72.
Epub 2020 Jun 19
doi: 10.1016/j.clinbiochem.2020.06.011.
PMID: 32569589
Amarnani AA,
Poladian KR,
Marciano BE,
Daub JR,
Williams SG,
Livinski AA,
Hsu AP,
Palmer CL,
Kenney CM,
Avila DN,
Holland SM,
Katz JD
Sci Rep
2020 May 20;10(1):8305.
doi: 10.1038/s41598-020-64852-1.
PMID: 32433473Free PMC Article