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neonatal transient hypertyrosinemia 相关文献:
Hypertyrosinemia.
Adnan M, Puranik S.
2022 Nov 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:35201733
Neonatal hyperinsulinism in transient and classical forms of tyrosinemia.
Sethuram S, Sperling MA, Gujral J, Romero CJ.
Orphanet J Rare Dis. 2021 Apr 28;16(1):190. doi: 10.1186/s13023-020-01642-y.
PMID:33910593
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH.
Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):3-32. doi: 10.1002/ajmg.c.30293. Epub 2011 Feb 9.
PMID:21308989
A case of transient neonatal citrullinemia.
Ohtake A, Takayanagi M, Ogura N, Nakajima H.
Eur J Pediatr. 1983 Oct;141(1):60-1. doi: 10.1007/BF00445674.
PMID:6641770
Comprehensive Evaluation of the NeoBase 2 Non-derivatized MSMS Assay and Exploration of Analytes With Significantly Different Concentrations Between Term and Preterm Neonates.
Lee B, Heo WY, Kim JA, Lee HS, Hwang N, Park HD, Sung SI, Chang YS, Park WS, Lee SY.
Ann Lab Med. 2023 Mar 1;43(2):153-166. doi: 10.3343/alm.2023.43.2.153. Epub 2022 Oct 25.
PMID:36281509
Necrotizing enterocolitis - classification and two initial steps towards prevention.
Juhl SM.
Dan Med J. 2017 Jun;64(6):B5362.
PMID:28566122
Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism.
Usha Rani G, Kadali S, Kurma Reddy B, Shaheena D, Naushad SM.
Metabolomics. 2023 May 3;19(5):49. doi: 10.1007/s11306-023-02013-x.
PMID:37131043
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA.
Mol Genet Metab. 2012 Sep;107(1-2):49-54. doi: 10.1016/j.ymgme.2012.05.022. Epub 2012 Jul 13.
PMID:22885033
Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria.
Antonozzi I, Dominici R, Andreoli M, Monaco F.
J Endocrinol Invest. 1980 Oct-Dec;3(4):357-63. doi: 10.1007/BF03349371.
PMID:7204885
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM.
Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.
PMID:25081276
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