PubMed for id: 57586

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38579669,38565513,38497870,38448019,38422816,38375550,38374571,38369717,38337708,38301530,38295195,38201843,38198573,38171814,38167094,38113552,38078487,38065893,38054409,38039045,38016774,37986659,37940810,37939726,37938118,37933604,37906139,37890575,37872088,37865865,37807629,37795793,37717413,37702610,37690181,37643956,37495534,37490345,37480106,37454183,37427576,37401903,37395264,37365635,37350098,37243436,37242166,37196891,37146589,37146272,37073851,37042609,37029238,37026568,37004302,36994644,36933207,36883293,36881658,36870389,36854409,36827025,36807131,36787440,36751005,36729192,36722221,36709914,36702451,36680545,36680390,36662638,36599957,36574877,36544340,36536326,36499263,36474391,36423742,36377209,36356370,36354261,36287611,36266255,36252454,36220785,36217298,36175366,36141788,36129623,36128655,36100998,36079864,36049366,35866457,35798653,35726796,35725541,35711415,35605046,35346058,35279366,35276826,35276469,35249549,35244055,35236361,35145162,35142380,35101895,35076907,35046116,34996714,34988999,34980542,34973183,34970103,34958254,34911610,34843255,34786702,34726276,34704407,34684069,34673402,34670952,34670888,34653322,34637785,34606567,34573334,34569752,34510628,34469752,34433721,34419780,34378890,34343381,34343359,34281619,34258834,34232532,34210698,34116006,34060131,34059532,34058057,34045052,34035022,34015158,34014569,34014557,34006251,33867389,33861477,33859183,33851512,33851467,33846069,33840128,33789861,33741270,33648834,33627582,33617202,33611823,33574402,33555496,33550136,33508432,33484963,33476544,33423264,33396517,33388234,33373331,33369168,33369132,33336822,33325055,33317798,33314525,33309754,33306822,33288448,33272297,33231058,33228018,33210478,33206168,33205249,33190319,33179600,33176737,33147643,33138136,33137944,33090410,33053818,33050909,33036647,32996606,32962675,32934962,32931185,32920938,32898940,32828733,32770317,32769929,32740958,32722104,32721946,32713002,32694660,32688360,32686765,32580855,32569589,32482918,32447331,32436673,32410394,32375202,32359471,32335094,32305173,32280145,32273051,32269302,32265410,32252669,32216101,32152836,32115597,32095520,32034732,32014801,31990680,31952925,31943503,31901042,31898207,31883128,31845334,31809266,31792768,31749211,31747589,31738301,31730530,31729055,31639099,31622240,31604595,31598944,31594068,31583399,31542996,31532938,31515792,31513782,31501335,31484827,31469252,31462712,31443672,31441224,31426867,31415401,31394303,31378982,31377149,31373508,31337884,31337745,31326288,31268178,31260111,31256334,31255436,31227828,31215258,31208364,31183366,31133529,31110235,31095934,31056765,31056400,31037164,31030429,31018246,30982989,30964822,30961665,30932189,30914790,30913345,30907007,30904234,30870873,30862943,30848473,30843237,30835861,30827756,30801523,30799367,30796097,30774101,30740724,30734935,30724386,30723942,30715743,30714172,30703226,30671986,30671984,30671983,30670878,30642297,30612563,30591617,30572553,30541480,30512161,30449781,30420308,30414373,30355940,30337552,30333473,30285816,30282613,30281517,30253962,30243302,30223008,30217721,30197275,30184221,30175132,30158522,30098237,30075114,30007405,29961498,29961243,29948653,29923457,29896748,29888426,29801986,29776373,29773863,29769109,29768370,29726081,29703588,29695388,29693650,29679984,29659898,29651749,29623395,29558304,29520739,29502911,29455222,29443755,29437538,29433939,29423830,29419856,29396029,29376577,29364180,29356227,29326055,29314318,29290659,29282796,29259521,29209134,29203429,29187023,29137101,29135898,29111448,29107336,29044911,29027067,28987776,28981931,28916119,28912414,28900784,28888854,28815739,28750687,28741715,28659245,28658158,28635494,28619060,28608518,28597413,28592010,28587924,28566761,28526534,28516797,28456727,28444906,28421780,28358054,28302489,28283349,28281899,28266016,28259708,28251416,28205048,28132756,28111830,28107167,28097854,28089752,28057010,28041819,28007335,27997078,27938561,27891735,27860485,27834067,27829683,27779681,27771289,27724842,27613354,27584578,27577219,27577216,27564695,27555199,27549856,27538463,27489181,27447480,27417235,27405544,27389718,27351760,27335400,27287393,27256231,27215558,27161368,27150549,27127784,27106216,27070778,27038030,27037498,27033733,27032484,26995155,26975868,26935171,26907707,26843370,26835685,26829317,26819360,26791129,26768012,26753873,26747635,26743057,26640932,26634836,26597322,26593089,26592762,26586473,26566957,26560030,26542286,26536777,26518943,26467175,26458767,26446336,26440671,26358771,26310964,26310552[uid]

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Results by year

Year	Number of Results
2015	18
2016	53
2017	62
2018	66
2019	79
2020	81
2021	76
2022	54
2023	69
2024	21

500 results

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Page 1

Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors.

Jalil S, Keskinen T, Juutila J, Sartori Maldonado R, Euro L, Suomalainen A, Lapatto R, Kuuluvainen E, Hietakangas V, Otonkoski T, Hyvönen ME, Wartiovaara K. Jalil S, et al. Am J Hum Genet. 2024 Apr 4;111(4):714-728. doi: 10.1016/j.ajhg.2024.03.004. Am J Hum Genet. 2024. PMID: 38579669 Free PMC article.

[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].

Zhu X, Xu Y, Zhang J, Li X, He J, Jia C, Lyu S, Liu S, Gao Y, Ma K, Ouyang Y, Ren Y, Zhao D. Zhu X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):461-466. doi: 10.3760/cma.j.cn511374-20230301-00103. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38565513 Chinese.

Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders.

Bilgin H, Bilge S, Binici M, Tekes S. Bilgin H, et al. Eur Rev Med Pharmacol Sci. 2024 Mar;28(5):1873-1880. doi: 10.26355/eurrev_202403_35601. Eur Rev Med Pharmacol Sci. 2024. PMID: 38497870 Free article.

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].

Zhang Q, Hao S, Hui L, Zheng L, Wang X, Feng X, Liu F, Chen X, Zhou B, Wang Y, Zhang C. Zhang Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10;41(3):306-311. doi: 10.3760/cma.j.cn511374-20221202-00828. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38448019 Chinese.

Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.

Duff C, Islam M, Gagliano O, Pramod H, Rashidi H, Kurian MA, Gissen P, Baruteau J. Duff C, et al. Stem Cell Res. 2024 Apr;76:103365. doi: 10.1016/j.scr.2024.103365. Epub 2024 Feb 28. Stem Cell Res. 2024. PMID: 38422816 Free 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

Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

Inui A, Ko JS, Chongsrisawat V, Sibal A, Hardikar W, Chang MH, Treepongkaruna S, Arai K, Kim KM, Chen HL. Inui A, et al. J Pediatr Gastroenterol Nutr. 2024 Feb;78(2):178-187. doi: 10.1002/jpn3.12042. Epub 2023 Dec 10. J Pediatr Gastroenterol Nutr. 2024. PMID: 38374571 Review.

Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders.

Patel M, Jaiswal A, Naseer A, Tripathi A, Joshi A, Minocha T, Kautu A, Gupta S, Joshi KB, Pandey MK, Kumar R, Dubey KD, Nazir A, Verma S, Gour N. Patel M, et al. ACS Chem Neurosci. 2024 Mar 6;15(5):916-931. doi: 10.1021/acschemneuro.3c00563. Epub 2024 Feb 18. ACS Chem Neurosci. 2024. PMID: 38369717

Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic.

Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML. Sánchez-Pintos P, et al. Nutrients. 2024 Jan 31;16(3):423. doi: 10.3390/nu16030423. Nutrients. 2024. PMID: 38337708 Free PMC article.

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.

Posset R, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Epp F, Ramdhouni N, Druck AC, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Mol Genet Metab. 2024 Mar;141(3):108112. doi: 10.1016/j.ymgme.2023.108112. Epub 2023 Dec 10. Mol Genet Metab. 2024. PMID: 38301530 Free article.

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