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congenital hyperammonemia相关文献:
Hyperammonemia in Inherited Metabolic Diseases.
Ribas GS, Lopes FF, Deon M, Vargas CR.
Cell Mol Neurobiol. 2022 Nov;42(8):2593-2610. doi: 10.1007/s10571-021-01156-6. Epub 2021 Oct 19.
PMID:34665389
Congenital Portosystemic Shunt Presenting As Hyperammonemia Following Fontan Operation.
Morneault K, Mathews A, Sharma P, Beasley G.
JPGN Rep. 2023 Feb 1;4(1):e282. doi: 10.1097/PG9.0000000000000282. eCollection 2023 Feb.
PMID:37181924
Wiedemann-Steiner Syndrome.
Sheppard SE, Quintero-Rivera F.
2022 May 26. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:35617449
Postattenuation neurologic signs after surgical attenuation of congenital portosystemic shunts in dogs: A review.
Mullins RA, Escribano Carrera A, Anderson DM, Billet JP, Brissot H, Broome C, de Rooster H, Kirby BM, Pratschke KM, Tivers MS, White RN, Yool DA, Youmans KR.
Vet Surg. 2022 Jan;51(1):23-33. doi: 10.1111/vsu.13729. Epub 2021 Sep 29.
PMID:34585759
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K.
Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr.
PMID:23345197
The hyperinsulinism/hyperammonemia syndrome.
Palladino AA, Stanley CA.
Rev Endocr Metab Disord. 2010 Sep;11(3):171-8. doi: 10.1007/s11154-010-9146-0.
PMID:20936362
Prenatally diagnosed congenital portosystemic shunts.
Francois B, Lachaux A, Gottrand F, De Smet S.
J Matern Fetal Neonatal Med. 2018 May;31(10):1364-1368. doi: 10.1080/14767058.2017.1315093. Epub 2017 Apr 20.
PMID:28372492
Ammonia Toxicity.
Padappayil RP, Borger J.
2023 Mar 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
PMID:31536283
Urea cycle disorders-update.
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K.
J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20.
PMID:31110235
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1.
Roy K, Satapathy AK, Houhton JAL, Flanagan SE, Radha V, Mohan V, Sharma R, Jain V.
Indian J Pediatr. 2019 Nov;86(11):1051-1053. doi: 10.1007/s12098-019-02980-x. Epub 2019 May 22.
PMID:31119523
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