De Sabbata G, Boisgerault F, Guarnaccia C, Iaconcig A, Bortolussi G, Collaud F
Mol Ther Methods Clin Dev. 2021; 20:169-180.
PMID: 33473356
PMC: 7786024.
DOI: 10.1016/j.omtm.2020.11.005.
Robinson J, Conroy P, Hardison D, Hamid R, Grubb P, Pietsch J
J Perinatol. 2018; 38(6):665-671.
PMID: 29467521
PMC: 6030490.
DOI: 10.1038/s41372-018-0084-0.
Picca S, Dionisi-Vici C, Bartuli A, De Palo T, Papadia F, Montini G
Pediatr Nephrol. 2014; 30(5):839-47.
PMID: 25185886
DOI: 10.1007/s00467-014-2945-x.
Gropman A, Fricke S, Seltzer R, Hailu A, Adeyemo A, Sawyer A
Mol Genet Metab. 2008; 95(1-2):21-30.
PMID: 18662894
PMC: 3724938.
DOI: 10.1016/j.ymgme.2008.06.003.
Kantner G
Hum Genet. 1983; 64(1):1-23.
PMID: 6873941
DOI: 10.1007/BF00289472.
Studies of X-chromosome inactivation with an improved histochemical technique for ornithine carbamoyltransferase.
Wareham K, Howell S, Williams D, Williams E
Histochem J. 1983; 15(4):363-71.
PMID: 6863020
DOI: 10.1007/BF01002969.
Carrier detection in ornithine transcarbamylase deficiency.
Haan E, Danks D, Grimes A, Hoogenraad N
J Inherit Metab Dis. 1982; 5(1):37-40.
PMID: 6820412
DOI: 10.1007/BF01799752.
Ornithine carbamoyl transferase deficiency: a neuropathological study.
Harding B, Leonard J, ERDOHAZI M
Eur J Pediatr. 1984; 141(4):215-20.
PMID: 6734670
DOI: 10.1007/BF00572763.
Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.
BECROFT D, Barry D, Webster D, Simmonds H
J Inherit Metab Dis. 1984; 7(4):157-9.
PMID: 6441862
DOI: 10.1007/BF01805599.
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.
Palmer T, Oberholzer V, Burgess E, Butler L, Levin B
Arch Dis Child. 1974; 49(6):443-9.
PMID: 4852321
PMC: 1648820.
DOI: 10.1136/adc.49.6.443.
Hyperammonemia through deficiency of ornithine carbamyl transferase.
Farriaux J, Dhondt J, Cathelineau L, Ratel J, Fontaine G
Z Kinderheilkd. 1974; 118(3):231-47.
PMID: 4446691
DOI: 10.1007/BF00464614.
Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia.
Nyhan W, Wolff J, Kulovich S, Shumacher A
Eur J Pediatr. 1985; 143(3):211-3.
PMID: 3987717
DOI: 10.1007/BF00442141.
Neuropathology of ornithine carbamyl transferase deficiency.
Kornfeld M, WOODFIN B, Papile L, Davis L, Bernard L
Acta Neuropathol. 1985; 65(3-4):261-4.
PMID: 3976361
DOI: 10.1007/BF00687006.
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.
Zimmermann A, Bachmann C, Schubiger G
Virchows Arch A Pathol Anat Histopathol. 1985; 408(2-3):259-68.
PMID: 3936265
DOI: 10.1007/BF00707988.
Late-onset form of partial N-acetylglutamate synthetase deficiency.
Elpeleg O, COLOMBO J, Amir N, Bachmann C, Hurvitz H
Eur J Pediatr. 1990; 149(9):634-6.
PMID: 2373115
DOI: 10.1007/BF02034751.
Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
Carstens R, Fenton W, Rosenberg L
Am J Hum Genet. 1991; 48(6):1105-14.
PMID: 2035531
PMC: 1683104.
Pure akinesia: an atypical manifestation of progressive supranuclear palsy.
Matsuo H, Takashima H, Kishikawa M, Kinoshita I, Mori M, Tsujihata M
J Neurol Neurosurg Psychiatry. 1991; 54(5):397-400.
PMID: 1865200
PMC: 488536.
DOI: 10.1136/jnnp.54.5.397.
Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia.
Tsujii T, Morita T, Matsuyama Y, Matsui T, Tamura M, Matsuoka Y
Gastroenterol Jpn. 1976; 11(4):328-40.
PMID: 1017595
DOI: 10.1007/BF02777374.
X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.
Ricciuti F, Gelehrter T, ROSENBERG L
Am J Hum Genet. 1976; 28(4):332-8.
PMID: 941900
PMC: 1685051.
The influence of ammonia on purine and pyrimidine nucleotide biosynthesis in rat liver and brain in vitro.
Skaper S, OBrien W, Schafer I
Biochem J. 1978; 172(3):457-64.
PMID: 687355
PMC: 1185719.
DOI: 10.1042/bj1720457.
