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Items: 1 to 20 of 74

1.

Minimal hepatic glucose-6-phosphatase-α activity required to sustain survival and prevent hepatocellular adenoma formation in murine glycogen storage disease type Ia.

Lee YM, Kim GY, Pan CJ, Mansfield BC, Chou JY.

Mol Genet Metab Rep. 2015 Mar 13;3:28-32. doi: 10.1016/j.ymgmr.2015.03.001. eCollection 2015 Jun.

2.

In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA.

Landau DJ, Brooks ED, Perez-Pinera P, Amarasekara H, Mefferd A, Li S, Bird A, Gersbach CA, Koeberl DD.

Mol Ther. 2016 Apr;24(4):697-706. doi: 10.1038/mt.2016.35. Epub 2016 Feb 11.

PMID:
26865405
3.

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I.

Ross KM, Brown LM, Corrado MM, Chengsupanimit T, Curry LM, Ferrecchia IA, Porras LY, Mathew JT, Weinstein DA.

JIMD Rep. 2016;26:85-90. doi: 10.1007/8904_2015_488. Epub 2015 Aug 25.

4.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.

Genet Med. 2014 Nov;16(11):e1.

PMID:
25356975
5.

Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I.

Beegle RD, Brown LM, Weinstein DA.

JIMD Rep. 2015;18:23-32. doi: 10.1007/8904_2014_344. Epub 2014 Oct 12.

6.

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. doi: 10.1007/s10545-014-9772-x. Epub 2014 Oct 7. Review.

PMID:
25288127
7.

Pregnancy in women with glycogen storage disease Ia and Ib.

Ferrecchia IA, Guenette G, Potocik EA, Weinstein DA.

J Perinat Neonatal Nurs. 2014 Jan-Mar;28(1):26-31. doi: 10.1097/JPN.0000000000000017. Review.

PMID:
24476649
8.

Menorrhagia in patients with type I glycogen storage disease.

Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS.

Obstet Gynecol. 2013 Dec;122(6):1246-54. doi: 10.1097/01.AOG.0000435451.86108.82.

PMID:
24201678
9.

Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.

Eminoglu TF, Ezgu FS, Hasanoglu A, Tumer L.

Gene. 2013 Apr 15;518(2):346-50. doi: 10.1016/j.gene.2012.12.104. Epub 2013 Jan 23.

PMID:
23352793
10.

Clinical outcome of hepatocyte transplantation in four pediatric patients with inherited metabolic diseases.

Ribes-Koninckx C, Ibars EP, Calzado Agrasot MÁ, Bonora-Centelles A, Miquel BP, Vila Carbó JJ, Aliaga ED, Pallardó JM, Gómez-Lechón MJ, Castell JV.

Cell Transplant. 2012;21(10):2267-82. doi: 10.3727/096368912X637505.

PMID:
23231960
11.

Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.

Shieh JJ, Lu YH, Huang SW, Huang YH, Sun CH, Chiou HJ, Liu C, Lo MY, Lin CY, Niu DM.

Gene. 2012 Nov 1;509(1):154-7. doi: 10.1016/j.gene.2012.07.057. Epub 2012 Aug 14.

PMID:
22909800
12.

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

Wang DQ, Carreras CT, Fiske LM, Austin S, Boree D, Kishnani PS, Weinstein DA.

Genet Med. 2012 Sep;14(9):795-9. doi: 10.1038/gim.2012.41. Epub 2012 Jun 7.

13.

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.

Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A, Carubbi F, Rigoldi M, Di Rocco M.

J Inherit Metab Dis. 2013 Jan;36(1):83-9. doi: 10.1007/s10545-012-9490-1. Epub 2012 May 5.

PMID:
22562700
14.

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.

Visser G, de Jager W, Verhagen LP, Smit GP, Wijburg FA, Prakken BJ, Coffer PJ, Buitenhuis M.

J Inherit Metab Dis. 2012 Mar;35(2):287-300. doi: 10.1007/s10545-011-9379-4. Epub 2011 Aug 24.

PMID:
21863279
15.

[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. Chinese.

PMID:
21575371
16.

Recombinant AAV-directed gene therapy for type I glycogen storage diseases.

Chou JY, Mansfield BC.

Expert Opin Biol Ther. 2011 Aug;11(8):1011-24. doi: 10.1517/14712598.2011.578067. Epub 2011 Apr 20. Review.

17.

Natural history of hepatocellular adenoma formation in glycogen storage disease type I.

Wang DQ, Fiske LM, Carreras CT, Weinstein DA.

J Pediatr. 2011 Sep;159(3):442-6. doi: 10.1016/j.jpeds.2011.02.031. Epub 2011 Apr 9.

18.

Glycogen storage disease type Ia (GSD Ia) during pregnancy: report of a case complicated by fetal growth restriction and preeclampsia.

Yamamoto T, Suzuki Y, Kaneko S, Hattori Y, Obayashi S, Suzumori N, Sugiura M.

J Obstet Gynaecol Res. 2010 Oct;36(5):1125-9.

PMID:
21058447
19.

Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.

Dagli AI, Lee PJ, Correia CE, Rodriguez C, Bhattacharya K, Steinkrauss L, Stanley CA, Weinstein DA.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S151-7. doi: 10.1007/s10545-010-9054-1. Epub 2010 Apr 13.

20.

Hypovitaminosis D in glycogen storage disease type I.

Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS.

Mol Genet Metab. 2010 Apr;99(4):434-7. doi: 10.1016/j.ymgme.2009.12.012. Epub 2009 Dec 21.

PMID:
20060350
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