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For: Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, Bonnefont JP, Ottolenghi C, De Lonlay P. Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients. Orphanet J Rare Dis 2015;10:58. [PMID: 25958381 DOI: 10.1186/s13023-015-0266-1] [Cited by in Crossref: 40] [Cited by in F6Publishing: 34] [Article Influence: 5.7] [Reference Citation Analysis]
Number Citing Articles
1 Shao Y, Jiang M, Lin Y, Mei H, Zhang W, Cai Y, Su X, Hu H, Li X, Liu L. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency. Clin Genet 2017;92:318-22. [DOI: 10.1111/cge.13004] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 2.4] [Reference Citation Analysis]
2 Hediger N, Landolt MA, Diez-fernandez C, Huemer M, Häberle J. The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders. J Inherit Metab Dis 2018;41:689-98. [DOI: 10.1007/s10545-018-0157-4] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
3 Santos CD, Ratzlaff RA, Meder JC, Atwal PS, Joyce NE. Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again. Case Rep Crit Care 2017;2017:8724810. [PMID: 29279777 DOI: 10.1155/2017/8724810] [Reference Citation Analysis]
4 Krijt J, Sokolová J, Ješina P, Dvořáková L, Řeboun M, Brennerová K, Mistrík M, Zeman J, Honzík T, Kožich V. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency. Clinical Chemistry and Laboratory Medicine (CCLM) 2017;55:1168-77. [DOI: 10.1515/cclm-2016-0715] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
5 Weiss N, Mochel F, Rudler M, Demeret S, Lebray P, Conti F, Galanaud D, Ottolenghi C, Bonnefont J, Dommergues M, Bernuau J, Thabut D. Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum. Journal of Hepatology 2018;68:185-92. [DOI: 10.1016/j.jhep.2017.09.009] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
6 Marquetand J, Freisinger P, Lindig T, Euler S, Gasser M, Overkamp D. Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female. BMC Neurol 2020;20:118. [PMID: 32252669 DOI: 10.1186/s12883-020-01700-9] [Reference Citation Analysis]
7 Sayyahmelli S, Sayyahmelli S, Erginoglu U, Başkaya MK. Neurotoxic Effects of Ammonia in a Patient With Ornithine Transcarbamylase Deficiency and Bilateral Brain Abscesses: Case Report. Neurohospitalist 2021;11:241-5. [PMID: 34163550 DOI: 10.1177/1941874420971154] [Reference Citation Analysis]
8 Pontoizeau C, Roda C, Arnoux JB, Vignolo-Diard P, Brassier A, Habarou F, Barbier V, Grisel C, Abi-Warde MT, Boddaert N, Kuster A, Servais A, Kaminska A, Hennequin C, Dupic L, Lesage F, Touati G, Valayannopoulos V, Chadefaux-Vekemans B, Oualha M, Eisermann M, Ottolenghi C, de Lonlay P. Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders. Mol Genet Metab 2020;130:110-7. [PMID: 32273051 DOI: 10.1016/j.ymgme.2020.03.003] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
9 Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing. Orphanet J Rare Dis 2018;13:174. [PMID: 30285816 DOI: 10.1186/s13023-018-0908-1] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 3.5] [Reference Citation Analysis]
10 Vasquez-Loarte T, Thompson JD, Merritt JL 2nd. Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening. Int J Neonatal Screen 2020;6:E77. [PMID: 33124615 DOI: 10.3390/ijns6040077] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
11 Enns GM, Porter MH, Francis-sedlak M, Burdett A, Vockley J. Perspectives on urea cycle disorder management: Results of a clinician survey. Molecular Genetics and Metabolism 2019;128:102-8. [DOI: 10.1016/j.ymgme.2019.07.009] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
12 Wang X, Yuan Y, Didelija IC, Mohammad MA, Marini JC. Ex Vivo Enteroids Recapitulate In Vivo Citrulline Production in Mice. J Nutr 2018;148:1415-20. [PMID: 30184221 DOI: 10.1093/jn/nxy126] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
13 Selvanathan A, Hertzog A, Lemberg DA, Ellaway C. Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series. J Pediatr Gastroenterol Nutr 2020;71:208-10. [PMID: 32265410 DOI: 10.1097/MPG.0000000000002716] [Reference Citation Analysis]
14 Ziogas IA, Wu WK, Matsuoka LK, Pai AK, Hafberg ET, Gillis LA, Morgan TM, Alexopoulos SP. Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time. Liver Transpl 2021. [PMID: 34058057 DOI: 10.1002/lt.26186] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
15 Cavino K, Sung B, Su Q, Na E, Kim J, Cheng X, Gromada J, Okamoto H. Glucagon Receptor Inhibition Reduces Hyperammonemia and Lethality in Male Mice with Urea Cycle Disorder. Endocrinology 2021;162:bqaa211. [PMID: 33206168 DOI: 10.1210/endocr/bqaa211] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Sivashanmugam M, J J, V U, K N S. Ornithine and its role in metabolic diseases: An appraisal. Biomed Pharmacother 2017;86:185-94. [PMID: 27978498 DOI: 10.1016/j.biopha.2016.12.024] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 3.7] [Reference Citation Analysis]
17 Juchniewicz P, Piotrowska E, Kloska A, Podlacha M, Mantej J, Węgrzyn G, Tukaj S, Jakóbkiewicz-Banecka J. Dosage Compensation in Females with X-Linked Metabolic Disorders. Int J Mol Sci 2021;22:4514. [PMID: 33925963 DOI: 10.3390/ijms22094514] [Reference Citation Analysis]
18 Ribas GS, Lopes FF, Deon M, Vargas CR. Hyperammonemia in Inherited Metabolic Diseases. Cell Mol Neurobiol 2021. [PMID: 34665389 DOI: 10.1007/s10571-021-01156-6] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
19 Bennett EE, Hummel K, Smith AG, Longo N. Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. J Emerg Med 2019;56:e5-8. [PMID: 30420308 DOI: 10.1016/j.jemermed.2018.09.037] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
20 Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP. OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort. J Inherit Metab Dis 2021;44:1235-47. [PMID: 34014569 DOI: 10.1002/jimd.12404] [Reference Citation Analysis]
21 Ngu L, Winters JN, Nguyen K, Ramos KE, DeLateur NA, Makowski L, Whitford PC, Ondrechen MJ, Beuning PJ. Probing remote residues important for catalysis in Escherichia coli ornithine transcarbamoylase. PLoS One 2020;15:e0228487. [PMID: 32027716 DOI: 10.1371/journal.pone.0228487] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
22 Lu D, Han F, Qiu W, Zhang H, Ye J, Liang L, Wang Y, Ji W, Zhan X, Gu X, Han L. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency. Orphanet J Rare Dis 2020;15:340. [PMID: 33272297 DOI: 10.1186/s13023-020-01606-2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
23 Messina M, Raudino F, Iacobacci R, Meli C, Fiumara A. New ratio as a useful marker for early diagnosis of proximal urea cycle disorders. Clin Chim Acta 2021;520:154-9. [PMID: 34116006 DOI: 10.1016/j.cca.2021.06.011] [Reference Citation Analysis]
24 Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux JB, Damaj L, Odent S, Moreau C, Redonnet-Vernhet I, Mesli S, Servais A, Noel E, Charriere S, Rigalleau V, Lavigne C, Kaphan E, Roubertie A, Besson G, Bigot A, Servettaz A, Mochel F, Garnotel R. Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients. J Inherit Metab Dis 2021;44:1199-214. [PMID: 34014557 DOI: 10.1002/jimd.12403] [Reference Citation Analysis]
25 Perocheau DP, Cunningham S, Lee J, Antinao Diaz J, Waddington SN, Gilmour K, Eaglestone S, Lisowski L, Thrasher AJ, Alexander IE, Gissen P, Baruteau J. Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort. Hum Gene Ther 2019;30:79-87. [PMID: 30027761 DOI: 10.1089/hum.2018.098] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 4.5] [Reference Citation Analysis]
26 Peng MZ, Li XZ, Mei HF, Sheng HY, Yin X, Jiang MY, Cai YN, Su L, Lin YT, Shao YX, Liu L. Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency. Clin Biochem 2020;84:63-72. [PMID: 32569589 DOI: 10.1016/j.clinbiochem.2020.06.011] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
27 Pizzi MA, Alejos D, Hasan TF, Atwal PS, Krishnaiengar SR, Freeman WD. Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review. Neurohospitalist 2019;9:30-6. [PMID: 30671162 DOI: 10.1177/1941874418764817] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
28 Nettesheim S, Kölker S, Karall D, Häberle J, Posset R, Hoffmann GF, Heinrich B, Gleich F, Garbade SF; Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU). Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland. Orphanet J Rare Dis 2017;12:111. [PMID: 28619060 DOI: 10.1186/s13023-017-0661-x] [Cited by in Crossref: 29] [Cited by in F6Publishing: 25] [Article Influence: 5.8] [Reference Citation Analysis]
29 Rahayatri TH, Uchida H, Sasaki K, Shigeta T, Hirata Y, Kanazawa H, Mali V, Fukuda A, Sakamoto S, Kasahara M. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors. Pediatr Transplantation 2017;21:e12848. [DOI: 10.1111/petr.12848] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
30 Berraondo P, Martini PGV, Avila MA, Fontanellas A. Messenger RNA therapy for rare genetic metabolic diseases. Gut 2019;68:1323-30. [PMID: 30796097 DOI: 10.1136/gutjnl-2019-318269] [Cited by in Crossref: 24] [Cited by in F6Publishing: 24] [Article Influence: 8.0] [Reference Citation Analysis]
31 Gómez-Aguado I, Rodríguez-Castejón J, Vicente-Pascual M, Rodríguez-Gascón A, Solinís MÁ, Del Pozo-Rodríguez A. Nanomedicines to Deliver mRNA: State of the Art and Future Perspectives. Nanomaterials (Basel) 2020;10:E364. [PMID: 32093140 DOI: 10.3390/nano10020364] [Cited by in Crossref: 33] [Cited by in F6Publishing: 31] [Article Influence: 16.5] [Reference Citation Analysis]
32 Alameri M, Shakra M, Alsaadi T. Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report. J Med Case Rep 2015;9:267. [PMID: 26593089 DOI: 10.1186/s13256-015-0741-2] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 1.1] [Reference Citation Analysis]
33 Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J Inherit Metab Dis 2016;39:661-72. [PMID: 27106216 DOI: 10.1007/s10545-016-9938-9] [Cited by in Crossref: 40] [Cited by in F6Publishing: 32] [Article Influence: 6.7] [Reference Citation Analysis]
34 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. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis 2019;42:1192-230. [PMID: 30982989 DOI: 10.1002/jimd.12100] [Cited by in Crossref: 93] [Cited by in F6Publishing: 76] [Article Influence: 31.0] [Reference Citation Analysis]
35 Chongsrisawat V, Damrongphol P, Ittiwut C, Ittiwut R, Suphapeetiporn K, Shotelersuk V. The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency. Gene 2018;679:377-81. [PMID: 30223008 DOI: 10.1016/j.gene.2018.09.026] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
36 Nguyen HH, Khanh Nguyen N, Dung Vu C, Thu Huong Nguyen T, Nguyen NL. Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations. Front Pediatr 2020;8:321. [PMID: 32793520 DOI: 10.3389/fped.2020.00321] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]