Etiology
Komatsu M,
Tanaka N,
Kimura T,
Yazaki M
Nutrients
2023 May 12;15(10)
doi: 10.3390/nu15102284.
PMID: 37242166Free PMC Article
Hassan A
Tremor Other Hyperkinet Mov (N Y)
2023;13:9.
Epub 2023 Mar 28
doi: 10.5334/tohm.747.
PMID: 37008993Free PMC Article
Palmieri F,
Scarcia P,
Monné M
Biomolecules
2020 Apr 23;10(4)
doi: 10.3390/biom10040655.
PMID: 32340404Free 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
Wasim M,
Awan FR,
Khan HN,
Tawab A,
Iqbal M,
Ayesha H
Biochem Genet
2018 Apr;56(1-2):7-21.
Epub 2017 Nov 1
doi: 10.1007/s10528-017-9825-6.
PMID: 29094226
Diagnosis
Komatsu M,
Tanaka N,
Kimura T,
Yazaki M
Nutrients
2023 May 12;15(10)
doi: 10.3390/nu15102284.
PMID: 37242166Free PMC Article
Hassan A
Tremor Other Hyperkinet Mov (N Y)
2023;13:9.
Epub 2023 Mar 28
doi: 10.5334/tohm.747.
PMID: 37008993Free 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
Wasim M,
Awan FR,
Khan HN,
Tawab A,
Iqbal M,
Ayesha H
Biochem Genet
2018 Apr;56(1-2):7-21.
Epub 2017 Nov 1
doi: 10.1007/s10528-017-9825-6.
PMID: 29094226
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
Huang X
Zhejiang Da Xue Xue Bao Yi Xue Ban
2023 Oct 3;52(6):744-750.
doi: 10.3724/zdxbyxb-2023-0378.
PMID: 37807629Free PMC Article
Hassan A
Tremor Other Hyperkinet Mov (N Y)
2023;13:9.
Epub 2023 Mar 28
doi: 10.5334/tohm.747.
PMID: 37008993Free PMC Article
Hayasaka K
J Inherit Metab Dis
2021 Jan;44(1):110-117.
Epub 2020 Aug 26
doi: 10.1002/jimd.12294.
PMID: 32740958
Okano Y,
Ohura T,
Sakamoto O,
Inui A
Mol Genet Metab
2019 Jul;127(3):175-183.
Epub 2019 Jun 15
doi: 10.1016/j.ymgme.2019.06.004.
PMID: 31255436
Leibowitz J,
Thoene J,
Spector E,
Nyhan W
Virchows Arch A Pathol Anat Histol
1978 Mar 10;377(3):249-58.
doi: 10.1007/BF00426934.
PMID: 148153
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
Kido J,
Häberle J,
Sugawara K,
Tanaka T,
Nagao M,
Sawada T,
Wada Y,
Numakura C,
Murayama K,
Watanabe Y,
Kojima-Ishii K,
Sasai H,
Kosugiyama K,
Nakamura K
J Inherit Metab Dis
2022 May;45(3):431-444.
Epub 2022 Feb 25
doi: 10.1002/jimd.12483.
PMID: 35142380
Longhitano Y,
Zanza C,
Thangathurai D,
Taurone S,
Kozel D,
Racca F,
Audo A,
Ravera E,
Migneco A,
Piccioni A,
Franceschi F
Rev Recent Clin Trials
2020;15(4):289-297.
doi: 10.2174/1574887115666200811105251.
PMID: 32781963
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
Curis E,
Crenn P,
Cynober L
Curr Opin Clin Nutr Metab Care
2007 Sep;10(5):620-6.
doi: 10.1097/MCO.0b013e32829fb38d.
PMID: 17693747
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
Posset R,
Kölker S,
Gleich F,
Okun JG,
Gropman AL,
Nagamani SCS,
Scharre S,
Probst J,
Walter ME,
Hoffmann GF,
Garbade SF,
Zielonka M;
Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group
Mol Genet Metab
2020 Dec;131(4):390-397.
Epub 2020 Nov 7
doi: 10.1016/j.ymgme.2020.10.013.
PMID: 33288448Free PMC Article
Longhitano Y,
Zanza C,
Thangathurai D,
Taurone S,
Kozel D,
Racca F,
Audo A,
Ravera E,
Migneco A,
Piccioni A,
Franceschi F
Rev Recent Clin Trials
2020;15(4):289-297.
doi: 10.2174/1574887115666200811105251.
PMID: 32781963
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
Curis E,
Crenn P,
Cynober L
Curr Opin Clin Nutr Metab Care
2007 Sep;10(5):620-6.
doi: 10.1097/MCO.0b013e32829fb38d.
PMID: 17693747