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Items: 1 to 20 of 34

1.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GP, Derks TG.

J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22.

2.

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X.

J Hum Genet. 2016 Jul;61(7):641-5. doi: 10.1038/jhg.2016.24. Epub 2016 Mar 17.

PMID:
26984562
3.

Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis.

Melis D, Rossi A, Pivonello R, Del Puente A, Pivonello C, Cangemi G, Negri M, Colao A, Andria G, Parenti G.

Bone. 2016 May;86:79-85. doi: 10.1016/j.bone.2016.02.012. Epub 2016 Feb 23.

PMID:
26924264
4.

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.

Preisler N, Laforêt P, Madsen KL, Prahm KP, Hedermann G, Vissing CR, Galbo H, Vissing J.

Neurology. 2015 Apr 28;84(17):1767-71. doi: 10.1212/WNL.0000000000001518. Epub 2015 Apr 1.

PMID:
25832663
5.

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Rousseau-Nepton I, Okubo M, Grabs R; FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C.

CMAJ. 2015 Feb 3;187(2):E68-73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19.

6.
7.

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P.

Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f.

PMID:
21857385
8.

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS.

Genet Med. 2010 Jul;12(7):424-30. doi: 10.1097/GIM.0b013e3181d94eaa.

PMID:
20648714
9.

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy.

Wary C, Nadaj-Pakleza A, Laforêt P, Claeys KG, Carlier R, Monnet A, Fleury S, Baligand C, Eymard B, Labrune P, Carlier PG.

Neuromuscul Disord. 2010 Aug;20(8):548-58. doi: 10.1016/j.nmd.2010.06.011.

PMID:
20620060
10.

Glycogen Storage Disease Type III.

Dagli A, Sentner CP, Weinstein DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2010 Mar 9 [updated 2016 Dec 29].

11.

The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

Hobson-Webb LD, Austin SL, Bali DS, Kishnani PS.

Genet Med. 2010 Jul;12(7):440-5. doi: 10.1097/GIM.0b013e3181cd735b.

PMID:
20071996
12.

Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Endo Y, Fateen E, El Shabrawy M, Aoyama Y, Ebara T, Murase T, Podskarbi T, Shin YS, Okubo M.

Clin Chem Lab Med. 2009;47(10):1233-8. doi: 10.1515/CCLM.2009.281.

PMID:
19754354
13.

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.

Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S103-6. doi: 10.1007/s10545-009-1088-x. Epub 2009 Mar 30.

14.

Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis.

Seigel J, Weinstein DA, Hillman R, Colbert B, Matthews B, Bachrach B.

J Pediatr Endocrinol Metab. 2008 Jun;21(6):587-90. Erratum in: J Pediatr Endocrinol Metab. 2009 Feb;22(2):191.

PMID:
18717245
15.

Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control.

Bernier AV, Sentner CP, Correia CE, Theriaque DW, Shuster JJ, Smit GP, Weinstein DA.

J Inherit Metab Dis. 2008 Dec;31(6):729-32. doi: 10.1007/s10545-008-0919-5. Epub 2008 Aug 19.

16.

Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.

Mundy HR, Williams JE, Lee PJ, Fewtrell MS.

J Inherit Metab Dis. 2008 Jun;31(3):418-23. doi: 10.1007/s10545-008-0830-0. Epub 2008 Apr 4.

PMID:
18392743
17.

Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure.

Davis MK, Weinstein DA.

Pediatr Transplant. 2008 Mar;12(2):137-45. doi: 10.1111/j.1399-3046.2007.00803.x. Review.

PMID:
18307661
18.

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.

Lucchiari S, Santoro D, Pagliarani S, Comi GP.

Acta Myol. 2007 Jul;26(1):72-4.

19.

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS.

J Hepatol. 2007 Mar;46(3):492-8. Epub 2006 Nov 9. Review.

20.

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M.

J Hum Genet. 2006;51(11):958-63. Epub 2006 Sep 19.

PMID:
17047887

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