Etiology
Imbard A,
Bouchereau J,
Arnoux JB,
Brassier A,
Schiff M,
Bérat CM,
Pontoizeau C,
Benoist JF,
Josse C,
Montestruc F,
de Lonlay P
Orphanet J Rare Dis
2023 Jul 21;18(1):207.
doi: 10.1186/s13023-023-02800-8.
PMID: 37480106Free PMC Article
Bousman CA,
Bengesser SA,
Aitchison KJ,
Amare AT,
Aschauer H,
Baune BT,
Asl BB,
Bishop JR,
Burmeister M,
Chaumette B,
Chen LS,
Cordner ZA,
Deckert J,
Degenhardt F,
DeLisi LE,
Folkersen L,
Kennedy JL,
Klein TE,
McClay JL,
McMahon FJ,
Musil R,
Saccone NL,
Sangkuhl K,
Stowe RM,
Tan EC,
Tiwari AK,
Zai CC,
Zai G,
Zhang J,
Gaedigk A,
Müller DJ
Pharmacopsychiatry
2021 Jan;54(1):5-17.
Epub 2020 Nov 4
doi: 10.1055/a-1288-1061.
PMID: 33147643
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
Pearson TS,
Pons R,
Ghaoui R,
Sue CM
Mov Disord
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
PMID: 30913345
Summar ML,
Mew NA
Pediatr Clin North Am
2018 Apr;65(2):231-246.
Epub 2018 Feb 2
doi: 10.1016/j.pcl.2017.11.004.
PMID: 29502911
Diagnosis
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
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
Summar ML,
Mew NA
Pediatr Clin North Am
2018 Apr;65(2):231-246.
Epub 2018 Feb 2
doi: 10.1016/j.pcl.2017.11.004.
PMID: 29502911
Häberle J,
Boddaert N,
Burlina A,
Chakrapani A,
Dixon M,
Huemer M,
Karall D,
Martinelli D,
Crespo PS,
Santer R,
Servais A,
Valayannopoulos V,
Lindner M,
Rubio V,
Dionisi-Vici C
Orphanet J Rare Dis
2012 May 29;7:32.
doi: 10.1186/1750-1172-7-32.
PMID: 22642880Free PMC Article
Auron A,
Brophy PD
Pediatr Nephrol
2012 Feb;27(2):207-22.
Epub 2011 Mar 23
doi: 10.1007/s00467-011-1838-5.
PMID: 21431427
Therapy
Imbard A,
Bouchereau J,
Arnoux JB,
Brassier A,
Schiff M,
Bérat CM,
Pontoizeau C,
Benoist JF,
Josse C,
Montestruc F,
de Lonlay P
Orphanet J Rare Dis
2023 Jul 21;18(1):207.
doi: 10.1186/s13023-023-02800-8.
PMID: 37480106Free PMC Article
Shakerdi L,
Ryan A
J Clin Pathol
2023 Aug;76(8):501-509.
Epub 2023 May 10
doi: 10.1136/jcp-2022-208644.
PMID: 37164630
Bousman CA,
Bengesser SA,
Aitchison KJ,
Amare AT,
Aschauer H,
Baune BT,
Asl BB,
Bishop JR,
Burmeister M,
Chaumette B,
Chen LS,
Cordner ZA,
Deckert J,
Degenhardt F,
DeLisi LE,
Folkersen L,
Kennedy JL,
Klein TE,
McClay JL,
McMahon FJ,
Musil R,
Saccone NL,
Sangkuhl K,
Stowe RM,
Tan EC,
Tiwari AK,
Zai CC,
Zai G,
Zhang J,
Gaedigk A,
Müller DJ
Pharmacopsychiatry
2021 Jan;54(1):5-17.
Epub 2020 Nov 4
doi: 10.1055/a-1288-1061.
PMID: 33147643
Raina R,
Bedoyan JK,
Lichter-Konecki U,
Jouvet P,
Picca S,
Mew NA,
Machado MC,
Chakraborty R,
Vemuganti M,
Grewal MK,
Bunchman T,
Sethi SK,
Krishnappa V,
McCulloch M,
Alhasan K,
Bagga A,
Basu RK,
Schaefer F,
Filler G,
Warady BA
Nat Rev Nephrol
2020 Aug;16(8):471-482.
Epub 2020 Apr 8
doi: 10.1038/s41581-020-0267-8.
PMID: 32269302Free PMC Article
Häberle J,
Boddaert N,
Burlina A,
Chakrapani A,
Dixon M,
Huemer M,
Karall D,
Martinelli D,
Crespo PS,
Santer R,
Servais A,
Valayannopoulos V,
Lindner M,
Rubio V,
Dionisi-Vici C
Orphanet J Rare Dis
2012 May 29;7:32.
doi: 10.1186/1750-1172-7-32.
PMID: 22642880Free PMC Article
Prognosis
Tavoulari S,
Lacabanne D,
Thangaratnarajah C,
Kunji ERS
Trends Endocrinol Metab
2022 Aug;33(8):539-553.
Epub 2022 Jun 17
doi: 10.1016/j.tem.2022.05.002.
PMID: 35725541Free 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
Matsumoto S,
Häberle J,
Kido J,
Mitsubuchi H,
Endo F,
Nakamura K
J Hum Genet
2019 Sep;64(9):833-847.
Epub 2019 May 20
doi: 10.1038/s10038-019-0614-4.
PMID: 31110235
Pearson TS,
Pons R,
Ghaoui R,
Sue CM
Mov Disord
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
PMID: 30913345
Häberle J
Eur J Pediatr
2011 Jan;170(1):21-34.
Epub 2010 Dec 17
doi: 10.1007/s00431-010-1369-2.
PMID: 21165747
Clinical prediction guides
Posset R,
Zielonka M,
Gleich F,
Garbade SF,
Hoffmann GF,
Kölker S;
Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
J Inherit Metab Dis
2023 Nov;46(6):1007-1016.
Epub 2023 Oct 10
doi: 10.1002/jimd.12678.
PMID: 37702610
Tavoulari S,
Lacabanne D,
Thangaratnarajah C,
Kunji ERS
Trends Endocrinol Metab
2022 Aug;33(8):539-553.
Epub 2022 Jun 17
doi: 10.1016/j.tem.2022.05.002.
PMID: 35725541Free 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
Häberle J,
Boddaert N,
Burlina A,
Chakrapani A,
Dixon M,
Huemer M,
Karall D,
Martinelli D,
Crespo PS,
Santer R,
Servais A,
Valayannopoulos V,
Lindner M,
Rubio V,
Dionisi-Vici C
Orphanet J Rare Dis
2012 May 29;7:32.
doi: 10.1186/1750-1172-7-32.
PMID: 22642880Free PMC Article
Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR
Orphanet J Rare Dis
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
PMID: 22642865Free PMC Article