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nonketotic hyperglycinemia相关文献:
Nonketotic Hyperglycinemia.
Van Hove JLK, Coughlin C II, Swanson M, Hennermann JB.
2002 Nov 14 [updated 2019 May 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301531
Nonketotic Hyperglycinemia: Insight into Current Therapies.
Nowak M, Chuchra P, Paprocka J.
J Clin Med. 2022 May 27;11(11):3027. doi: 10.3390/jcm11113027.
PMID:35683414
Nonketotic Hyperglycinemia.
Krawiec C, Anastasopoulou C.
2023 Mar 2. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:32310600
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL.
Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10.
PMID:26179960
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL.
Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30.
PMID:27362913
[Nonketotic hyperglycinemia].
Tada K, Kure S.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):227-30.
PMID:9590032
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
Applegarth DA, Toone JR.
Mol Genet Metab. 2001 Sep-Oct;74(1-2):139-46. doi: 10.1006/mgme.2001.3224.
PMID:11592811
Nonketotic hyperglycinemia: clinical, biochemical, and therapeutic considerations.
Langan TJ, Pueschel SM.
Curr Probl Pediatr. 1983 Jan;13(3):1-30. doi: 10.1016/0045-9380(83)90016-6.
PMID:6301756
Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects.
Kure S, Tada K, Narisawa K.
Jpn J Hum Genet. 1997 Mar;42(1):13-22. doi: 10.1007/BF02766917.
PMID:9183995
Nonketotic hyperglycinemia.
Baumgartner R, Ando T, Nyhan WL.
J Pediatr. 1969 Dec;75(6):1022-30. doi: 10.1016/s0022-3476(69)80341-0.
PMID:5352828
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