354 related articles for article (PubMed ID: 24334290)
1. 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]
2. Lipoic acid biosynthesis defects.
Mayr JA; Feichtinger RG; Tort F; Ribes A; Sperl W
J Inherit Metab Dis; 2014 Jul; 37(4):553-63. PubMed ID: 24777537
[TBL] [Abstract][Full Text] [Related]
3. Nonketotic hyperglycinemia in captive-bred Vervet monkeys (Chlorocebus aethiops) with cataracts.
Khoza S; Ngqaneka T; Magwebu ZE; Chauke CG
J Med Primatol; 2019 Jun; 48(3):161-165. PubMed ID: 30724368
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
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. Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
Kure S; Kojima K; Ichinohe A; Maeda T; Kalmanchey R; Fekete G; Berg SZ; Filiano J; Aoki Y; Suzuki Y; Izumi T; Matsubara Y
Ann Neurol; 2002 Nov; 52(5):643-6. PubMed ID: 12402263
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA; Coughlin CR; 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. PubMed ID: 26179960
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Two novel missense mutations observed in nonketotic hyperglycinemia.
Yoon IA; Lee NM; Yoo BH; Lee BS; Yoo HW
Pediatr Neurol; 2012 Jun; 46(6):401-3. PubMed ID: 22633639
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L; Dallabona C; Swanson MA; Farris J; Østergaard E; Tsiakas K; Hempel M; Aquaviva-Bourdain C; Koutsoukos S; Stence NV; Magistrati M; Spector EB; Kronquist K; Christensen M; Karstensen HG; Feichtinger RG; Achleitner MT; Lawrence Merritt Ii J; Pérez B; Ugarte M; Grünewald S; Riela AR; Julve N; Arnoux JB; Haldar K; Donnini C; Santer R; Lund AM; Mayr JA; Rodriguez-Pombo P; Van Hove JLK
Hum Mol Genet; 2023 Mar; 32(6):917-933. PubMed ID: 36190515
[TBL] [Abstract][Full Text] [Related]
15. Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio.
Jackson AH; Applegarth DA; Toone JR; Kure S; Levy HL
J Child Neurol; 1999 Jul; 14(7):464-7. PubMed ID: 10573469
[TBL] [Abstract][Full Text] [Related]
16. A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
Love JM; Prosser D; Love DR; Chintakindi KP; Dalal AB; Aggarwal S
J Child Neurol; 2014 Jan; 29(1):122-7. PubMed ID: 23349517
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F; Hamel Y; Haack TB; Feichtinger RG; Lebigot E; Marquardt I; Busiah K; Laroche C; Madrange M; Grisel C; Pontoizeau C; Eisermann M; Boutron A; Chrétien D; Chadefaux-Vekemans B; Barouki R; Bole-Feysot C; Nitschke P; Goudin N; Boddaert N; Nemazanyy I; Delahodde A; Kölker S; Rodenburg RJ; Korenke GC; Meitinger T; Strom TM; Prokisch H; Rotig A; Ottolenghi C; Mayr JA; de Lonlay P
Am J Hum Genet; 2017 Aug; 101(2):283-290. PubMed ID: 28757203
[TBL] [Abstract][Full Text] [Related]
19. Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.
Khraim W; Abu-Libdeh B; Ayesh S; Dweikat I
Brain Dev; 2017 Aug; 39(7):601-605. PubMed ID: 28325525
[TBL] [Abstract][Full Text] [Related]
20. Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene.
Brenton JN; Rust RS
Pediatr Neurol; 2014 May; 50(5):536-8. PubMed ID: 24731848
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
