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38523856,38375550,38258666,38167094,38078487,38053940,38053928,37643956,37628367,37626723,37520683,37401903,37151362,37073851,37042609,36854409,36827025,36620389,36620388,36620387,36620386,36620385,36437853,36377209,36362876,36303552,36252454,36220785,36217298,36141788,36128655,35949846,35949797,35874323,35822098,35601507,35601422,35346058,35211578,35204506,35203994,35145162,35046116,34987927,34958254,34786702,34726276,34703837,34670952,34163550,34060131,34035022,34014569,33867389,33552645,33550136,33489762,33473356,33369132,33272297,32995020,32922350,32905004,32898940,32828733,32793520,32601573,32569589,32482918,32373372,32265410,32034732,32014801,31952925,31662921,31513782,31441224,31415401,31337745,30904234,30725942,30671983,30671162,30572553,30449781,30406504,30333473,30223008,30175132,30131866,30094907,29623395,29623158,29558304,29524203,29396029,29279777,29123827,28887792,28815739,28597413,28324312,28293384,28266016,28107167,27997078,27489649,27447480,27256231,27070778,27000017,26819360,26791129,26753873,26427994,26080667,26067829,26059767,25994866,25958381,25949836,25932215,25853564,25759629,25727841,25711267,25687292,25573644,25511598,25434494,25297582,25227973,25011434,24997132,24909877,24881970,24850570,24804122,24711021,24616362,24485820,24370386,24199608,24148626,24142276,24073003,24010702,24006547,23926375,23829977,23821427,23790482,23776342,23769969,23669167,23640148,23568734,23430866,23283608,23278509,23209112,23085206,22728053,22727265,22583334,22563224,22264779,22241703,22232626,22190902,22138526,22133298,22129577,22110002,21926883,21884343,21736537,21644234,21642786,21624287,21585627,21083101,21070677,20817516,20570026,20497355,20488904,20458665,20422467,20406775,20127982,20031247,19893582,19783189,19737127,19669271,19640662,19567648,19468698,19384294,19359120,19343772,19225137,19211285,19036090,18697914,18662894,18651132,18440262,18414167,18343177,18262815,18211511,18204299,18057853,18030415,17922216,17845164,17763159,17596675,17407001,17334707,17210820,17186414,17091258,17065101,17041896,16703326,16635166,16601886,16575347,16490102,16453063,16341494,16136341,15910448,15877212,15781198,15578616,15466081,15336649,15289781,15280615,15243986,15240946,15201380,15159648,14976564,14705115,14685553,14607061,14522733,12804198,12788037,12647200,12637287,12556295,12536032,12514690,12402347,12175784,12175783,12136059,12083811,11891099,11826609,11806886,11804205,11793483,11779420,11773558,11745010,11499911,11388595,11286382,11276280,11260212,11241058,11216899,11180228,11148526,11117428,11117427,11104170,11080238,10946359,10891562,10799432,10737985,10502831,10485370,10456765,10448647,10405441,10388475,10064660,9869044,9854602,9831349,9724471,9714304,9703419,9686350,9686344,9610619,9598692,9427144,9286441,9266388,9223881,9175746,9112359,9064003,9056557,9048915,9033181,9028466,9018015,9007316,8985493,8957809,8956038,8933675,8903337,8862622,8857803,8847794,8830285,8798241,8786061,8778603,8732901,8544185,8530002,8441099,8412748,8365726,8282523,8099056,8040774,8008687,8001320,7914668,7860066,7860064,7827141,7816342,7797025,7729184,7702100,7666324,7499756,7474892,7389139,7383749,7351973,7243329,7191930,7155674,7116641,7114619,7075721,6823424,6820412,6733950,6731721,6711559,6616881,6510024,6441862,6429436,6428329,4067786,3981356,3945292,3944708,3826955,3816076,3732588,3617058,3508674,3440448,3370859,3355210,3346778,3308467,3170748,3162766,3091923,3091026,3087194,3039990,3017613,3004207,2903704,2899508,2878615,2878115,2857026,2818615,2741942,2709615,2707281,2678891,2612006,2575934,2564432,2387875,2347583,2342831,2298453,2298452,2281529,2255172,2246687,2234317,2210591,2208768,2095337,2037279,2035531,2012137,2001730,1908679,1883110,1806371,1793191,1782729,1742044,1713629,1671317,1627356,1549234,1511981,1353535,1291170,980551,977722,729890,690755,683780,429491,168725,21051,38054409,37350098,37208102,37146589,36266189,36129623,36064267,35605046,35163260,34973183,34906067,33851512,33611823,33369168,33210478,32934962,32410394,31426867,31215258,30541480,30285816,29769109,29581464,29282796,29259521,29097507,29094226,28741715,28238287,27891735,26995155,26743057,26640932,26593089,26446336,26002495,25902754,25433810,25192511,25026867,24992243,24772957,24271778,23551631,22648777,22403018,22262466,21918856,21774770,21467225,20503433,19475717,19364077,19318352,19138872,19080473,18986243,18616627,18524659,18487280,18071043,18033025,17613537,17570074,17565723,17300882,17262046,17044854,16802108,16786505,16435204,16212637,16177636,16143887,15924745,15316978,15174800,15164414,15103938,14998268,14567964,12812952,12777539,12649734,12618087,12579493,12534125,12522437,12470351,11902270,11793468,11768581,11694259,11204270,11148551,11102556,11083498,10910641,10885542,10541323,10439967,10219976,10098145,9973542,9778587,9666130,9630607,9609999,9572674,9266387,9224503,9086462,9065786,9061562,8938172,8830175,8804381,8631974,8566955,8461026,8376608,8372069,8364586,8231346,8174277,8162279,8112735,8102193,7479595,6873941,6494904,5074751,38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Results by year

Year	Number of Results
1972	1
1975	3
1976	3
1977	1
1978	4
1979	1
1980	4
1981	1
1982	6
1983	3
1984	8
1985	6
1986	14
1987	8
1988	9
1989	10
1990	18
1991	14
1992	10
1993	17
1994	8
1995	15
1996	22
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1998	15
1999	14
2000	15
2001	13
2002	17
2003	15
2004	16
2005	13
2006	17
2007	20
2008	19
2009	20
2010	18
2011	18
2012	16
2013	23
2014	25
2015	20
2016	12
2017	16
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2020	23
2021	23
2022	38
2023	20
2024	7

636 results

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Page 1

Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency.

Seol H, Hong YH, Jeon MJ. Seol H, et al. AACE Clin Case Rep. 2024 Jan 24;10(2):71-74. doi: 10.1016/j.aace.2024.01.005. eCollection 2024 Mar-Apr. AACE Clin Case Rep. 2024. PMID: 38523856 Free PMC article.

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550

Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature.

Arhip L, Agreda J, Serrano-Moreno C, Motilla de la Cámara M, Carrascal Fabián ML, Bielza A, Velasco Gimeno C, Camblor M, Bretón I, Cuerda C. Arhip L, et al. Nutr Hosp. 2024 Jan 15. doi: 10.20960/nh.04867. Online ahead of print. Nutr Hosp. 2024. PMID: 38258666 Free article. English.

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Siri B, Olivieri G, Lepri FR, Poms M, Goffredo BM, Commone A, Novelli A, Häberle J, Dionisi-Vici C. Siri B, et al. Orphanet J Rare Dis. 2024 Jan 2;19(1):3. doi: 10.1186/s13023-023-02997-8. Orphanet J Rare Dis. 2024. PMID: 38167094 Free PMC article.

Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.

Tsykunova G, Kristensen E, Stray-Pedersen A, Bruserud Ø, Sørensen IW, Bruserud Ø, Tvedt THA. Tsykunova G, et al. Hematology. 2023 Dec;28(1):2265187. doi: 10.1080/16078454.2023.2265187. Epub 2023 Oct 5. Hematology. 2023. PMID: 38078487

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

Seker Yilmaz B, Baruteau J, Chakrapani A, Champion M, Chronopoulou E, Claridge LC, Daly A, Davies C, Davison J, Dhawan A, Grunewald S, Gupte GL, Heaton N, Lemonde H, McKiernan P, Mills P, Morris AAM, Mundy H, Pierre G, Rajwal S, Sivananthan S, Sreekantam S, Stepien KM, Vara R, Yeo M, Gissen P. Seker Yilmaz B, et al. Mol Genet Metab Rep. 2023 Nov 5;37:101020. doi: 10.1016/j.ymgmr.2023.101020. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053940 Free PMC article.

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Ramosaj A, Singhal P, Schaller A, Laemmle A. Ramosaj A, et al. Mol Genet Metab Rep. 2023 Sep 6;37:101007. doi: 10.1016/j.ymgmr.2023.101007. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053928 Free PMC article.

[Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review].

Zhou D, Shang X, Qiao Y, Cheng Y, Yu Z, Huang X. Zhou D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1107-1112. doi: 10.3760/cma.j.cn511374-20220624-00423. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37643956 Review. Chinese.

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.

Ibrahim MS, Gold JI, Woodall A, Yilmaz BS, Gissen P, Stepien KM. Ibrahim MS, et al. Children (Basel). 2023 Aug 9;10(8):1368. doi: 10.3390/children10081368. Children (Basel). 2023. PMID: 37628367 Free PMC article. Review.

Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.

Seker Yilmaz B, Gissen P. Seker Yilmaz B, et al. Biomedicines. 2023 Aug 8;11(8):2227. doi: 10.3390/biomedicines11082227. Biomedicines. 2023. PMID: 37626723 Free PMC article. Review.

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