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Items: 1 to 20 of 51

1.
2.

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.

3.

A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.

Ogimoto A, Okubo M, Okayama H, Shin YS, Endo Y, Ebara T, Inoue K, Ohtsuka T, Tahara H, Murase T, Higaki J.

Circ J. 2007 Oct;71(10):1653-6.

4.

Glycogen storage disease associated with left ventricular aneurysm in an elderly patient.

Toda G, Yoshimuta T, Kawano H, Yano K.

Jpn Circ J. 2001 May;65(5):462-4.

5.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT.

Pediatrics. 2004 May;113(5):e448-57.

PMID:
15121988
6.

Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease.

Lee TM, Berman-Rosenzweig ES, Slonim AE, Chung WK.

JIMD Rep. 2011;1:79-82. doi: 10.1007/8904_2011_20. Epub 2011 Jun 22.

7.

An adult case of glycogen storage disease type IIIa.

Kim KO, Lee HJ, Choi JW, Eun JR, Choi JH.

Korean J Hepatol. 2008 Jun;14(2):219-25. doi: 10.3350/kjhep.2008.14.2.219.

8.

Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.

Brambilla A, Mannarino S, Pretese R, Gasperini S, Galimberti C, Parini R.

JIMD Rep. 2014;17:91-5. doi: 10.1007/8904_2014_343. Epub 2014 Oct 12.

9.

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.

Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT.

Ann Intern Med. 1992 Jun 1;116(11):896-900.

PMID:
1580445
10.

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
12.

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.

Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT.

J Pediatr. 1990 Jan;116(1):95-100.

PMID:
2295969
13.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG.

N Engl J Med. 2005 Jan 27;352(4):362-72.

14.

Apical myectomy: a new surgical technique for management of severely symptomatic patients with apical hypertrophic cardiomyopathy.

Schaff HV, Brown ML, Dearani JA, Abel MD, Ommen SR, Sorajja P, Tajik AJ, Nishimura RA.

J Thorac Cardiovasc Surg. 2010 Mar;139(3):634-40. doi: 10.1016/j.jtcvs.2009.07.079.

16.

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT.

Mol Genet Metab. 2000 Jan;69(1):16-23.

PMID:
10655153
17.

A case of glycogen storage disease type III (glycogen debranching enzyme deficiency) with liver cirrhosis and hypertrophic cardiomyopathy.

Kobayashi A, Nishinomiya F, Fukamachi Y, Ohtaka M, Yamamoto J, Takagi K, Tanaka S, Takizawa S, Imadachi H, Fukase M, et al.

Tohoku J Exp Med. 1995 Jul;176(3):181-5.

18.

Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group.

Haagsma EB, Smit GP, Niezen-Koning KE, Gouw AS, Meerman L, Slooff MJ.

Hepatology. 1997 Mar;25(3):537-40.

PMID:
9049194
20.

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.

Sentner CP, Vos YJ, Niezen-Koning KN, Mol B, Smit GP.

JIMD Rep. 2013;7:19-26. doi: 10.1007/8904_2012_134. Epub 2012 Mar 16.

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