262 related articles for article (PubMed ID: 25804016)
1. Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.
Oguz MM; Aykan E; Yilmaz G; Aytekin C; Karaer K; Açoğlu EA
Genet Couns; 2014; 25(4):389-94. PubMed ID: 25804016
[TBL] [Abstract][Full Text] [Related]
2. [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
Liang CL; Liu L; Sheng HY; Jiang MY; Yin X; Mei HF; Cheng J; Zhang W; Fan LP
Zhongguo Dang Dai Er Ke Za Zhi; 2013 Aug; 15(8):661-5. PubMed ID: 23965881
[TBL] [Abstract][Full Text] [Related]
3. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.
Chou JY; Jun HS; Mansfield BC
J Inherit Metab Dis; 2015 May; 38(3):511-9. PubMed ID: 25288127
[TBL] [Abstract][Full Text] [Related]
4. Glycogen storage disease type Ib: the first case in Taiwan.
Hsiao HJ; Chang HH; Hwu WL; Lam CW; Lee NC; Chien YH
Pediatr Neonatol; 2009 Jun; 50(3):125-8. PubMed ID: 19579760
[TBL] [Abstract][Full Text] [Related]
5. [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
Qiu ZQ; Lu CX; Wang W; Qiu JJ; Wei M
Zhonghua Er Ke Za Zhi; 2011 Mar; 49(3):203-8. PubMed ID: 21575371
[TBL] [Abstract][Full Text] [Related]
6. A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
Xu Q; Tang H; Duan L; Zuo X; Shi X; Li Y; Zhao H; Zhang H
Mol Genet Genomic Med; 2021 Jan; 9(1):e1568. PubMed ID: 33280276
[TBL] [Abstract][Full Text] [Related]
7. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.
Sarajlija A; Djordjevic M; Kecman B; Skakic A; Pavlovic S; Pasic S; Stojiljkovic M
Eur J Med Genet; 2020 Mar; 63(3):103767. PubMed ID: 31536830
[TBL] [Abstract][Full Text] [Related]
8. Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report.
Meimand SE; Azizi G; Yazdani R; Sanadgol N; Rezaei N
Immunol Res; 2023 Feb; 71(1):107-111. PubMed ID: 36129616
[TBL] [Abstract][Full Text] [Related]
9. CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.
Skakic A; Andjelkovic M; Tosic N; Klaassen K; Djordjevic M; Pavlovic S; Stojiljkovic M
Gene; 2019 Jun; 703():17-25. PubMed ID: 30951856
[TBL] [Abstract][Full Text] [Related]
10. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D; Seydewitz HH; Bali D; Lang C; Chen YT
Eur J Pediatr; 2002 Oct; 161 Suppl 1():S10-9. PubMed ID: 12373566
[TBL] [Abstract][Full Text] [Related]
11. Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.
Bock DE; Rupar CA; Prasad C
Acta Paediatr; 2011 Sep; 100(9):e130-2. PubMed ID: 21352356
[TBL] [Abstract][Full Text] [Related]
12. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
Melis D; Fulceri R; Parenti G; Marcolongo P; Gatti R; Parini R; Riva E; Della Casa R; Zammarchi E; Andria G; Benedetti A
Eur J Pediatr; 2005 Aug; 164(8):501-8. PubMed ID: 15906092
[TBL] [Abstract][Full Text] [Related]
13. Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
Mameesh M; Ganesh A; Harikrishna B; Al Zuhaibi S; Scott P; Al Kalbani S; Al Thihli K
Ophthalmic Genet; 2017 Dec; 38(6):544-548. PubMed ID: 28511025
[TBL] [Abstract][Full Text] [Related]
14. Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration.
Kim GY; Lee YM; Kwon JH; Jun HS; Chou J
Biochem Biophys Res Commun; 2017 Jan; 482(4):569-574. PubMed ID: 27864142
[TBL] [Abstract][Full Text] [Related]
15. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Skakic A; Djordjevic M; Sarajlija A; Klaassen K; Tosic N; Kecman B; Ugrin M; Spasovski V; Pavlovic S; Stojiljkovic M
Clin Genet; 2018 Feb; 93(2):350-355. PubMed ID: 28685844
[TBL] [Abstract][Full Text] [Related]
16. Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY; Cho JH; Kim GY; Mansfield BC
J Inherit Metab Dis; 2018 Nov; 41(6):1007-1014. PubMed ID: 29663270
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
Han SH; Ki CS; Lee JE; Hong YJ; Son BK; Lee KH; Choe YH; Lee SY; Kim JW
J Korean Med Sci; 2005 Jun; 20(3):499-501. PubMed ID: 15953877
[TBL] [Abstract][Full Text] [Related]
18. Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.
Chen LY; Shieh JJ; Lin B; Pan CJ; Gao JL; Murphy PM; Roe TF; Moses S; Ward JM; Lee EJ; Westphal H; Mansfield BC; Chou JY
Hum Mol Genet; 2003 Oct; 12(19):2547-58. PubMed ID: 12925567
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
Galli L; Orrico A; Marcolongo P; Fulceri R; Burchell A; Melis D; Parini R; Gatti R; Lam C; Benedetti A; Sorrentino V
FEBS Lett; 1999 Oct; 459(2):255-8. PubMed ID: 10518030
[TBL] [Abstract][Full Text] [Related]
20. Molecular genetics of type 1 glycogen storage disease.
Janecke AR; Mayatepek E; Utermann G
Mol Genet Metab; 2001 Jun; 73(2):117-25. PubMed ID: 11386847
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
