Etiology
Vergano SAS
Pediatr Rev
2022 Jul 1;43(7):371-383.
doi: 10.1542/pir.2022-005088.
PMID: 35773536
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
Hanai T,
Shiraki M,
Imai K,
Suetugu A,
Takai K,
Shimizu M
Nutrients
2020 Jun 29;12(7)
doi: 10.3390/nu12071915.
PMID: 32610446Free 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
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
Caldovic L,
Abdikarim I,
Narain S,
Tuchman M,
Morizono H
J Genet Genomics
2015 May 20;42(5):181-94.
Epub 2015 May 19
doi: 10.1016/j.jgg.2015.04.003.
PMID: 26059767Free 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
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
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
Hayasaka K
J Inherit Metab Dis
2021 Jan;44(1):110-117.
Epub 2020 Aug 26
doi: 10.1002/jimd.12294.
PMID: 32740958
Hanai T,
Shiraki M,
Imai K,
Suetugu A,
Takai K,
Shimizu M
Nutrients
2020 Jun 29;12(7)
doi: 10.3390/nu12071915.
PMID: 32610446Free PMC Article
Herrera PM,
Vélez Van Meerbeke A,
Bonnot O
Rev Colomb Psiquiatr (Engl Ed)
2018 Oct-Dec;47(4):244-251.
Epub 2017 Jun 17
doi: 10.1016/j.rcp.2017.05.004.
PMID: 30286847
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
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
Caldovic L,
Abdikarim I,
Narain S,
Tuchman M,
Morizono H
J Genet Genomics
2015 May 20;42(5):181-94.
Epub 2015 May 19
doi: 10.1016/j.jgg.2015.04.003.
PMID: 26059767Free PMC Article
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
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
Baruteau J,
Diez-Fernandez C,
Lerner S,
Ranucci G,
Gissen P,
Dionisi-Vici C,
Nagamani S,
Erez A,
Häberle J
J Inherit Metab Dis
2019 Nov;42(6):1147-1161.
Epub 2019 Feb 5
doi: 10.1002/jimd.12047.
PMID: 30723942
Caldovic L,
Abdikarim I,
Narain S,
Tuchman M,
Morizono H
J Genet Genomics
2015 May 20;42(5):181-94.
Epub 2015 May 19
doi: 10.1016/j.jgg.2015.04.003.
PMID: 26059767Free 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