151 related articles for article (PubMed ID: 33890291)
1. Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Majethia P; Somashekar PH; Hebbar M; Kadavigere R; Praveen BK; Girisha KM; Shukla A
Clin Genet; 2021 Aug; 100(2):201-205. PubMed ID: 33890291
[TBL] [Abstract][Full Text] [Related]
2. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR; Friederich MW; Swanson MA; Shaikh T; Bhattacharya K; Scharer GH; Aicher J; Creadon-Swindell G; Geiger E; MacLean KN; Lee WT; Deshpande C; Freckmann ML; Shih LY; Wasserstein M; Rasmussen MB; Lund AM; Procopis P; Cameron JM; Robinson BH; Brown GK; Brown RM; Compton AG; Dieckmann CL; Collard R; Coughlin CR; Spector E; Wempe MF; Van Hove JL
Brain; 2014 Feb; 137(Pt 2):366-79. PubMed ID: 24334290
[TBL] [Abstract][Full Text] [Related]
3. A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
Lin Y; Zheng Z; Sun W; Fu Q
BMC Med Genet; 2018 Jan; 19(1):5. PubMed ID: 29304759
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
Azize NA; Ngah WZ; Othman Z; Md Desa N; Chin CB; Md Yunus Z; Mohan A; Hean TS; Syed Zakaria SZ; Lock-Hock N
J Hum Genet; 2014 Nov; 59(11):593-7. PubMed ID: 25231368
[TBL] [Abstract][Full Text] [Related]
5. Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A; Matsubara Y; Kure S
Mol Genet Metab; 2005; 86(1-2):61-9. PubMed ID: 16157495
[TBL] [Abstract][Full Text] [Related]
6. Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
Liu S; Wang Z; Liang J; Chen N; OuYang H; Zeng W; Chen L; Xie X; Jiang J
Arch Argent Pediatr; 2017 Aug; 115(4):e225-e229. PubMed ID: 28737873
[TBL] [Abstract][Full Text] [Related]
7. Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
Kure S; Kojima K; Kudo T; Kanno K; Aoki Y; Suzuki Y; Shinka T; Sakata Y; Narisawa K; Matsubara Y
J Hum Genet; 2001; 46(7):378-84. PubMed ID: 11450847
[TBL] [Abstract][Full Text] [Related]
8. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
Flusser H; Korman SH; Sato K; Matsubara Y; Galil A; Kure S
Neurology; 2005 Apr; 64(8):1426-30. PubMed ID: 15851735
[TBL] [Abstract][Full Text] [Related]
9. Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.
Brunel-Guitton C; Casey B; Coulter-Mackie M; Vallance H; Hewes D; Stockler-Ipsiroglu S; Mercimek-Mahmutoglu S
Mol Genet Metab; 2011 Jun; 103(2):193-6. PubMed ID: 21411353
[TBL] [Abstract][Full Text] [Related]
10. Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
Drackley A; Peter M; Rathbun P; Ing A; Prada CE; Yap KL
Am J Med Genet A; 2024 Apr; ():e63622. PubMed ID: 38572626
[TBL] [Abstract][Full Text] [Related]
11. X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
Scalais E; Osterheld E; Weitzel C; De Meirleir L; Mataigne F; Martens G; Shaikh TH; Coughlin CR; Yu HC; Swanson M; Friederich MW; Scharer G; Helbling D; Wendt-Andrae J; Van Hove JLK
Pediatr Neurol; 2017 Jun; 71():65-69. PubMed ID: 28363510
[TBL] [Abstract][Full Text] [Related]
12. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Alfadhel M; Nashabat M; Qahtani HA; Alfares A; Mutairi FA; Shaalan HA; Douglas GV; Wierenga K; Juusola J; Alrifai MT; Arold ST; Alkuraya F; Ali QA
Hum Genet; 2016 Nov; 135(11):1263-1268. PubMed ID: 27481395
[TBL] [Abstract][Full Text] [Related]
13. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Bayrak H; Yıldız Y; Olgaç A; Kasapkara ÇS; Küçükcongar A; Zenciroğlu A; Yüksel D; Ceylaner S; Kılıç M
Metab Brain Dis; 2021 Aug; 36(6):1213-1222. PubMed ID: 33791923
[TBL] [Abstract][Full Text] [Related]
14. Two novel missense mutations in nonketotic hyperglycinemia.
Yilmaz BS; Kor D; Ceylaner S; Mert GG; Incecik F; Kartal E; Mungan NO
J Child Neurol; 2015 May; 30(6):789-92. PubMed ID: 24838951
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S; Kato K; Dinopoulos A; Gail C; DeGrauw TJ; Christodoulou J; Bzduch V; Kalmanchey R; Fekete G; Trojovsky A; Plecko B; Breningstall G; Tohyama J; Aoki Y; Matsubara Y
Hum Mutat; 2006 Apr; 27(4):343-52. PubMed ID: 16450403
[TBL] [Abstract][Full Text] [Related]
16. [Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
Jiang TJ; Jiang JJ; Xu JL; Zhen J; Jiang PF; Gao F
Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1087-1091. PubMed ID: 29046206
[TBL] [Abstract][Full Text] [Related]
17. Nonketotic Hyperglycinemia: Two Case Reports and Review.
Poothrikovil RP; Al Thihli K; Al Futaisi A; Al Murshidi F
Neurodiagn J; 2019; 59(3):142-151. PubMed ID: 31433733
[TBL] [Abstract][Full Text] [Related]
18. Natural history of nonketotic hyperglycinemia in 65 patients.
Hoover-Fong JE; Shah S; Van Hove JL; Applegarth D; Toone J; Hamosh A
Neurology; 2004 Nov; 63(10):1847-53. PubMed ID: 15557500
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of GLDC, AMT and GCSH in cataract captive-bred vervet monkeys (Chlorocebus aethiops).
Chauke CG; Magwebu ZE; Sharma JR; Arieff Z; Seier JV
J Med Primatol; 2016 Aug; 45(4):189-94. PubMed ID: 27325422
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]