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For: Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 1992;116:896-900. [PMID: 1580445 DOI: 10.7326/0003-4819-116-11-896] [Citation(s) in RCA: 70] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]  Open
Number Cited by Other Article(s)
1
Quaglia A, Roberts EA, Torbenson M. Developmental and Inherited Liver Disease. MACSWEEN'S PATHOLOGY OF THE LIVER 2024:122-294. [DOI: 10.1016/b978-0-7020-8228-3.00003-x] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/02/2025]
2
Wicker C, Cano A, Decostre V, Froissart R, Maillot F, Perry A, Petit F, Voillot C, Wahbi K, Wenz J, Laforêt P, Labrune P. French recommendations for the management of glycogen storage disease type III. Eur J Med Res 2023;28:253. [PMID: 37488624 PMCID: PMC10364360 DOI: 10.1186/s40001-023-01212-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/01/2022] [Accepted: 07/05/2023] [Indexed: 07/26/2023]  Open
3
Gümüş E, Özen H. Glycogen storage diseases: An update. World J Gastroenterol 2023;29:3932-3963. [PMID: 37476587 PMCID: PMC10354582 DOI: 10.3748/wjg.v29.i25.3932] [Citation(s) in RCA: 23] [Impact Index Per Article: 11.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/28/2022] [Revised: 02/15/2023] [Accepted: 04/30/2023] [Indexed: 06/28/2023]  Open
4
Lim JA, Choi SJ, Gao F, Kishnani PS, Sun B. A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme. MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT 2020;18:240-249. [PMID: 32637453 PMCID: PMC7327847 DOI: 10.1016/j.omtm.2020.05.034] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 01/17/2020] [Accepted: 05/27/2020] [Indexed: 12/25/2022]
5
Halaby CA, Young SP, Austin S, Stefanescu E, Bali D, Clinton LK, Smith B, Pendyal S, Upadia J, Schooler GR, Mavis AM, Kishnani PS. Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genet Med 2019;21:2686-2694. [PMID: 31263214 DOI: 10.1038/s41436-019-0561-7] [Citation(s) in RCA: 28] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/12/2018] [Accepted: 05/21/2019] [Indexed: 02/07/2023]  Open
6
Abdullah IS, Teh SH, Khaidizar FD, Ngu LH, Keng WT, Yap S, Mohamed Z. Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients. Genes Genomics 2019;41:885-893. [PMID: 31028654 DOI: 10.1007/s13258-019-00815-9] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/07/2018] [Accepted: 04/02/2019] [Indexed: 11/30/2022]
7
Tarnopolsky MA. Myopathies Related to Glycogen Metabolism Disorders. Neurotherapeutics 2018;15:915-927. [PMID: 30397902 PMCID: PMC6277299 DOI: 10.1007/s13311-018-00684-2] [Citation(s) in RCA: 49] [Impact Index Per Article: 7.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]  Open
8
[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease]. BIOMEDICA 2018;38:30-42. [PMID: 29809327 DOI: 10.7705/biomedica.v38i0.3454] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/22/2016] [Revised: 04/10/2017] [Indexed: 11/21/2022]
9
Quaglia A, Roberts EA, Torbenson M. Developmental and Inherited Liver Disease. MACSWEEN'S PATHOLOGY OF THE LIVER 2018:111-274. [DOI: 10.1016/b978-0-7020-6697-9.00003-0] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/02/2025]
10
Sun B, Brooks ED, Koeberl DD. Preclinical Development of New Therapy for Glycogen Storage Diseases. Curr Gene Ther 2016;15:338-47. [PMID: 26122079 DOI: 10.2174/1566523215666150630132253] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/26/2014] [Revised: 03/24/2015] [Accepted: 04/01/2015] [Indexed: 02/07/2023]
11
Herlin B, Laforět P, Labrune P, Fournier E, Stojkovic T. Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve 2015;53:310-2. [DOI: 10.1002/mus.24977] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/14/2015] [Indexed: 11/10/2022]
12
Allegrini D, Autelitano A, Fogagnolo P, De Cillà S, Piozzi E, Mazza M, Paci S, Montanari C, Riva E, Rossetti L. Lens opacities in glycogenoses type I and III. CANADIAN JOURNAL OF OPHTHALMOLOGY 2015;50:480-4. [PMID: 26651310 DOI: 10.1016/j.jcjo.2015.08.008] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/19/2015] [Revised: 07/25/2015] [Accepted: 08/11/2015] [Indexed: 10/22/2022]
13
Mogahed EA, Girgis MY, Sobhy R, Elhabashy H, Abdelaziz OM, El-Karaksy H. Skeletal and cardiac muscle involvement in children with glycogen storage disease type III. Eur J Pediatr 2015;174:1545-1548. [PMID: 25948107 DOI: 10.1007/s00431-015-2546-0] [Citation(s) in RCA: 24] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/03/2014] [Revised: 04/09/2015] [Accepted: 04/14/2015] [Indexed: 10/23/2022]
14
Preisler N, Haller RG, Vissing J. Exercise in muscle glycogen storage diseases. J Inherit Metab Dis 2015;38:551-63. [PMID: 25326273 DOI: 10.1007/s10545-014-9771-y] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/07/2014] [Accepted: 09/09/2014] [Indexed: 12/11/2022]
15
Limongelli G, D’Alessandro R, Maddaloni V, Rea A, Sarkozy A, McKenna WJ. Skeletal muscle involvement in cardiomyopathies. J Cardiovasc Med (Hagerstown) 2013;14:837-61. [DOI: 10.2459/jcm.0b013e3283641c69] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
16
Ko JS, Moon JS, Seo JK, Yang HR, Chang JY, Park SS. A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. J Hum Genet 2013;59:42-5. [PMID: 24257475 DOI: 10.1038/jhg.2013.117] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/26/2013] [Revised: 09/20/2013] [Accepted: 09/27/2013] [Indexed: 11/09/2022]
17
Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S. Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III. Mol Biol Rep 2013;40:4197-202. [PMID: 23649758 DOI: 10.1007/s11033-013-2500-z] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/13/2013] [Accepted: 04/27/2013] [Indexed: 10/26/2022]
18
Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P. Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? Mol Genet Metab 2013;109:14-20. [PMID: 23507172 DOI: 10.1016/j.ymgme.2013.02.008] [Citation(s) in RCA: 31] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/12/2013] [Accepted: 02/12/2013] [Indexed: 11/22/2022]
19
Sentner CP, Caliskan K, Vletter WB, Smit GPA. Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient. JIMD Rep 2011;5:13-6. [PMID: 23430911 DOI: 10.1007/8904_2011_111] [Citation(s) in RCA: 31] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/23/2011] [Revised: 09/30/2011] [Accepted: 10/25/2011] [Indexed: 01/12/2023]  Open
20
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. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res 2011;70:638-41. [PMID: 21857385 DOI: 10.1203/pdr.0b013e318232154f] [Citation(s) in RCA: 85] [Impact Index Per Article: 6.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
21
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. J Hum Genet 2011;57:170-5. [PMID: 22089644 DOI: 10.1038/jhg.2011.122] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
22
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. Genet Med 2010;12:413-23. [PMID: 20526204 DOI: 10.1097/gim.0b013e3181e0e979] [Citation(s) in RCA: 26] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/22/2023]  Open
23
Clemente M, Gussinyer M, Arranz JA, Riudor E, Yeste D, Albisu M, Carrascosa A. Glycogen storage disease type III with hypoketosis. J Pediatr Endocrinol Metab 2010;23:833-6. [PMID: 21073127 DOI: 10.1515/jpem.2010.134] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/03/2023]
24
Wary C, Nadaj-Pakleza A, Laforêt P, Claeys KG, Carlier R, Monnet A, Fleury S, Baligand C, Eymard B, Labrune P, Carlier PG. Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy. Neuromuscul Disord 2010;20:548-58. [DOI: 10.1016/j.nmd.2010.06.011] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/23/2010] [Revised: 05/27/2010] [Accepted: 06/07/2010] [Indexed: 10/19/2022]
25
Glycogen Storage Disease Type III diagnosis and management guidelines. Genet Med 2010;12:446-63. [DOI: 10.1097/gim.0b013e3181e655b6] [Citation(s) in RCA: 181] [Impact Index Per Article: 12.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]  Open
26
Inborn errors of energy metabolism associated with myopathies. J Biomed Biotechnol 2010;2010:340849. [PMID: 20589068 PMCID: PMC2877206 DOI: 10.1155/2010/340849] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/29/2009] [Revised: 01/19/2010] [Accepted: 02/22/2010] [Indexed: 12/31/2022]  Open
27
Hobson-Webb LD, Austin SL, Bali DS, Kishnani PS. The electrodiagnostic characteristics of Glycogen Storage Disease Type III. Genet Med 2010;12:440-5. [DOI: 10.1097/gim.0b013e3181cd735b] [Citation(s) in RCA: 27] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]  Open
28
Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA. Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. J Inherit Metab Dis 2009;32 Suppl 1:S103-6. [PMID: 19322675 PMCID: PMC3808093 DOI: 10.1007/s10545-009-1088-x] [Citation(s) in RCA: 28] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/30/2008] [Revised: 01/07/2009] [Accepted: 01/26/2009] [Indexed: 10/21/2022]
29
Labrune P, Eberschweiler PT, Boudjemline AM, Hubert-Buron A, Petit F, Gajdos V. Histoire naturelle des glycogénoses avec atteinte hépatique. Presse Med 2008;37:1172-7. [DOI: 10.1016/j.lpm.2007.09.023] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/05/2007] [Revised: 09/05/2007] [Accepted: 09/26/2007] [Indexed: 12/01/2022]  Open
30
Kim KO, Lee HJ, Choi JW, Eun JR, Choi JH. An adult case of glycogen storage disease type IIIa. THE KOREAN JOURNAL OF HEPATOLOGY 2008;14:219-25. [DOI: 10.3350/kjhep.2008.14.2.219] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/05/2022]
31
Ozen H. Glycogen storage diseases: new perspectives. World J Gastroenterol 2007;13:2541-2553. [PMID: 17552001 PMCID: PMC4146814 DOI: 10.3748/wjg.v13.i18.2541] [Citation(s) in RCA: 174] [Impact Index Per Article: 9.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/30/2007] [Revised: 03/30/2007] [Accepted: 03/31/2007] [Indexed: 02/06/2023]  Open
32
Ogimoto A, Okubo M, Okayama H, Shin YS, Endo Y, Ebara T, Inoue K, Ohtsuka T, Tahara H, Murase T, Higaki J. A Japanese Patient With Cardiomyopathy Caused by a Novel Mutation R285X in the AGL Gene. Circ J 2007;71:1653-6. [PMID: 17895567 DOI: 10.1253/circj.71.1653] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
33
Bhatti S, Parry E. Successful pregnancy in a woman with glycogen storage disease type III. Aust N Z J Obstet Gynaecol 2006;46:168-9. [PMID: 16638043 DOI: 10.1111/j.1479-828x.2006.00549.x] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
34
Zimakas PJA, Rodd CJ. Glycogen storage disease type III in Inuit children. CMAJ 2005;172:355-8. [PMID: 15684118 PMCID: PMC545759 DOI: 10.1503/cmaj.1031589] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/01/2022]  Open
35
Lam CW, Lee ATC, Lam YY, Wong TW, Mak TWL, Fung WC, Chan KC, Ho CS, Tong SF. DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. Mol Genet Metab 2004;83:271-5. [PMID: 15542399 DOI: 10.1016/j.ymgme.2004.07.017] [Citation(s) in RCA: 18] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/26/2004] [Revised: 07/25/2004] [Accepted: 07/29/2004] [Indexed: 11/30/2022]
36
Mohart D, Russo P, Tobias JD. Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect. Paediatr Anaesth 2002;12:649-54. [PMID: 12358666 DOI: 10.1046/j.1460-9592.2002.00942.x] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
37
Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. AMERICAN JOURNAL OF MEDICAL GENETICS 2002;109:183-90. [PMID: 11977176 DOI: 10.1002/ajmg.10347] [Citation(s) in RCA: 31] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
38
Toda G, Yoshimuta T, Kawano H, Yano K. Glycogen Storage Disease Associated With Left Ventricular Aneurysm in an Elderly Patient. ACTA ACUST UNITED AC 2001;65:462-4. [PMID: 11348054 DOI: 10.1253/jcj.65.462] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
39
Guertl B, Noehammer C, Hoefler G. Metabolic cardiomyopathies. Int J Exp Pathol 2000;81:349-72. [PMID: 11298185 PMCID: PMC2517748 DOI: 10.1046/j.1365-2613.2000.00186.x] [Citation(s) in RCA: 85] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2001] [Accepted: 01/29/2001] [Indexed: 01/27/2023]  Open
40
Siciliano M, De Candia E, Ballarin S, Vecchio FM, Servidei S, Annese R, Landolfi R, Rossi L. Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease. J Clin Gastroenterol 2000;31:80-2. [PMID: 10914784 DOI: 10.1097/00004836-200007000-00020] [Citation(s) in RCA: 36] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/22/2023]
41
Fukuda T, Sugie H, Ito M. Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III. J Inherit Metab Dis 2000;23:95-106. [PMID: 10801050 DOI: 10.1023/a:1005695229464] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/12/2022]
42
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin 2000;18:151-65. [PMID: 10658172 DOI: 10.1016/s0733-8619(05)70182-1] [Citation(s) in RCA: 29] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2022]
43
Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Mol Genet Metab 2000;69:16-23. [PMID: 10655153 DOI: 10.1006/mgme.1999.2953] [Citation(s) in RCA: 27] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/22/2022]
44
Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am 1999;28:801-23. [PMID: 10609121 DOI: 10.1016/s0889-8529(05)70103-1] [Citation(s) in RCA: 69] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022]
45
Kiechl S, Willeit J, Vogel W, Kohlendorfer U, Poewe W. Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis. Neuromuscul Disord 1999;9:408-10. [PMID: 10545045 DOI: 10.1016/s0960-8966(99)00038-3] [Citation(s) in RCA: 20] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/01/2023]
46
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