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Items: 1 to 20 of 130

1.

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.

Soggia AP, Correa-Giannella ML, Fortes MA, Luna AM, Pereira MA.

BMC Med Genet. 2010 Jan 5;11:3. doi: 10.1186/1471-2350-11-3.

2.

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Bl├╝mel P, Gannon MC, Nuttall FQ, Groop LC.

J Clin Invest. 1998 Aug 1;102(3):507-15.

3.

The variable clinical phenotype of liver glycogen synthase deficiency.

Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y.

J Pediatr Endocrinol Metab. 2007 Dec;20(12):1339-42.

PMID:
18341095
4.

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.

Bachrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI.

J Pediatr. 2002 Jun;140(6):781-3.

PMID:
12072888
5.

Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia.

Nessa A, Kumaran A, Kirk R, Dalton A, Ismail D, Hussain K.

J Pediatr Endocrinol Metab. 2012;25(9-10):963-7. doi: 10.1515/jpem-2012-0165.

PMID:
23426827
6.

Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.

Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, Hjelm NM.

Clin Genet. 1998 Mar;53(3):184-90.

PMID:
9630072
7.

High frequency of missense mutations in glycogen storage disease type VI.

Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ.

J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.

PMID:
17705025
8.

Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.

Thromb Haemost. 1996 Aug;76(2):143-50.

PMID:
8865520
10.

[Hepatic glycogen synthetase deficiency or glycogen storage disease-zero. Mild phenotype with partial enzymatic defect].

de Kremer RD, de Capra AP, de Boldini CD, Hliba E, Givogri I.

Medicina (B Aires). 1990;50(4):299-309. Spanish.

PMID:
2130223
12.

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG.

Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10322-6.

13.

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K.

Am J Med Genet. 1999 Sep 17;86(3):253-7.

PMID:
10482875
15.

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.

Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E.

N Engl J Med. 2007 Oct 11;357(15):1507-14.

16.
17.

Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.

Al-Haggar M, Sakamoto O, Shaltout A, Al-Hawari A, Wahba Y, Abdel-Hadi D.

Clin Exp Nephrol. 2012 Aug;16(4):604-10. doi: 10.1007/s10157-012-0603-9. Epub 2012 Feb 18.

PMID:
22350464
18.

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.

Okubo M, Horinishi A, Takeuchi M, Suzuki Y, Sakura N, Hasegawa Y, Igarashi T, Goto K, Tahara H, Uchimoto S, Omichi K, Kanno H, Hayasaka K, Murase T.

Hum Genet. 2000 Jan;106(1):108-15.

PMID:
10982190
19.

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.

Wong LJ, Hwu WL, Dai P, Chen TJ.

Mol Genet Metab. 2001 Feb;72(2):175-80.

PMID:
11161844
20.

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H.

Hum Mutat. 2000 Apr;15(4):381.

PMID:
10737986
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