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Results: 1 to 20 of 161

1.

Glycogen storage disease type Ib: familial bleeding tendency.

Heyne K, Hosenfeld D, Grote W, Schaub J.

Eur J Pediatr. 1984 Nov;143(1):7-9.

PMID:
6334607
[PubMed - indexed for MEDLINE]
2.

Hypofibrinogenemia-dysfibrinogenemia and von Willebrand's disease in the same family.

Owen CA Jr, Bowie EJ, Fass DN, Perez RA, Cole TL, Stewart M.

Mayo Clin Proc. 1979 Jun;54(6):375-80.

PMID:
312982
[PubMed - indexed for MEDLINE]
3.

Glycogen storage disease type IB: a new model of genetic disorders involving the transport system of intracellular membrane.

Tada K, Narisawa K, Igarashi Y, Kato S.

Biochem Med. 1985 Apr;33(2):215-22.

PMID:
2988521
[PubMed - indexed for MEDLINE]
4.

A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type IB.

Igarashi Y, Kato S, Narisawa K, Tada K, Amano Y, Mori T, Takeuchi S.

Biochem Biophys Res Commun. 1984 Mar 15;119(2):593-7.

PMID:
6143556
[PubMed - indexed for MEDLINE]
5.

Glycogen storage disease type Ib without neutropenia.

Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, Sugie H, Kondo N, Matsubara Y, Narisawa K.

J Pediatr. 2000 Aug;137(2):253-6.

PMID:
10931421
[PubMed - indexed for MEDLINE]
6.

Von Willebrand's disease in an Icelandic family.

Jensson O, Wallett LH.

Acta Med Scand. 1970 Mar 3;187(3):229-34. No abstract available.

PMID:
5309885
[PubMed - indexed for MEDLINE]
7.

Inflammatory bowel disease in glycogen storage disease type Ib.

Roe TF, Thomas DW, Gilsanz V, Isaacs H Jr, Atkinson JB.

J Pediatr. 1986 Jul;109(1):55-9.

PMID:
3459848
[PubMed - indexed for MEDLINE]
8.

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E.

Am J Hum Genet. 1998 Oct;63(4):976-83.

PMID:
9758626
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.

Angaroni CJ, Labrune P, Petit F, Sastre D, Capra AE, Dodelson de Kremer R, Argaraña CE.

Mol Genet Metab. 2006 May;88(1):96-9. Epub 2006 Feb 21.

PMID:
16490377
[PubMed - indexed for MEDLINE]
10.

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.

Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GP.

J Pediatr. 2000 Aug;137(2):187-91.

PMID:
10931410
[PubMed - indexed for MEDLINE]
11.

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY.

J Biol Chem. 1999 Feb 26;274(9):5532-6.

PMID:
10026167
[PubMed - indexed for MEDLINE]
Free Article
12.

The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.

Pan CJ, Chen LY, Mansfield BC, Salani B, Varesio L, Chou JY.

Hum Genet. 2003 Apr;112(4):430-3. Epub 2003 Jan 31.

PMID:
12560945
[PubMed - indexed for MEDLINE]
13.
14.

Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.

Fenske CD, Jeffery S, Weber JL, Houlston RS, Leonard JV, Lee PJ.

J Med Genet. 1998 Apr;35(4):269-72.

PMID:
9598717
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E.

Eur J Hum Genet. 1999 Sep;7(6):717-23.

PMID:
10482962
[PubMed - indexed for MEDLINE]
Free Article
16.

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K.

Biochem Biophys Res Commun. 1998 Jul 20;248(2):426-31.

PMID:
9675154
[PubMed - indexed for MEDLINE]
17.

Arthritis, bleeding disorder and a chromosome marker--a family study.

Athreya BH, Bodurtha J, Nichols WW.

J Rheumatol. 1987 Jun;14(3):535-9.

PMID:
3498037
[PubMed - indexed for MEDLINE]
18.

Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity.

Heyne K, Henke-Wolter J.

Eur J Pediatr. 1989 Jan;148(4):341-3.

PMID:
2785037
[PubMed - indexed for MEDLINE]
19.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.

Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R.

J Inherit Metab Dis. 2005;28(6):945-50.

PMID:
16435187
[PubMed - indexed for MEDLINE]
20.

[Neutropenia in glycogenesis I B].

Faraci C, Ianniello A, Sesini E, Milesi S, Galmozzi A.

Pediatr Med Chir. 1984 Jul-Aug;6(4):535-7. Italian.

PMID:
6598220
[PubMed - indexed for MEDLINE]

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