|1|Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy. (22932100)
Guo L.L.... Ding G.F.
|2|Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. (21984055)
Furusawa Y.... Murata M.
|3|Characterization of a canine model of glycogen storage disease type IIIa. (22736456)
Yi H.... Sun B.
|4|Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. (21109326)
Mutel E.... Rajas F.
|5|Glycogen storage disease type V (Mc Ardle's disease): a report on three cases. (22234204)
Krishnamoorthy N.... Gayathri N.
|6|Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV. (21342345)
Mizuochi T.... Kage M.
|7|Ischemic stroke in an adult with glycogen storage disease type I. (20699197)
Goulart J.M.... Tuhrim S.
|8|Glycogen storage disease type 1: impact of medium-chain triglycerides on metabolic control and growth. (20357432)
Das A.M.... Illsinger S.
|9|Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease. (19558966)
Jones J.G.... Diogo L.
|10|Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. (19322675)
Dagli A.I.... Weinstein D.A.
|11|A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III. (19073362)
Kalkan Ucar S.... Darcan S.
|12|Emerging therapies for glycogen storage disease type I. (19541498)
Koeberl D.D.... Chen Y.T.
|13|Cardiac delayed enhancement distribution in extralysosomial glycogen storage disease. (19006777)
Fiocchi F.... Torricelli P.
|14|Glycogen storage disease type I in Tunisia: an epidemiological analysis. (18679824)
Ben Chehida A.... Ben Dridi M.F.
|15|Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. (17407002)
Geberhiwot T.... Cramb R.
|16|A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. (17257876)
Fyfe J.C.... Henthorn P.S.
|17|Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. (17047887)
ENDO Y.... Okubo M.
|18|Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II. (15703490)
Cresawn K.O.... Byrne B.J.
|19|Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. (15153218)
Ing R.J.... Kishnani P.S.
|20|DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. (15542399)
Lam C.W.... Tong S.F.
|21|The regulation of growth in glycogen storage disease type 1. (12608939)
Mundy H.R.... Lee P.J.
|22|Hepatic adenomatosis in glycogen storage disease type Ia: report of a case with unusual histology. (14521443)
Volmar K.E.... Creager A.J.
|23|3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib. (14707520)
Law L.K.... Fok T.F.
|24|Radical trapping in glycogen storage disease 1a. (12373576)
Wittenstein B.... KohlschA1tter A.
|25|Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia. (12086688)
Wittenstein B.... KohlschA1tter A.
|26|Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. (12373578)
Visser G.... Smit G.P.
|27|Glycogen storage disease type Ia: molecular study in Brazilian patients. (11310582)
de C Reis F.... Sartorato E.L.
|28|Early-onset lysosomal glycogen storage disease with normal acid maltase. (11596653)
Dayan R.M.... Renaud D.L.
|29|Glycogen storage disease associated with left ventricular aneurysm in an elderly patient. (11348054)
Toda G.... Yano K.
|30|Molecular genetics of type 1 glycogen storage disease. (11386847)
Janecke A.R.... Utermann G.
|31|Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. (10923042)
Santer R.... Schneppenheim R.
|32|Correction of glycogen storage disease type 1a in a mouse model by gene therapy. (10625614)
Zingone A.... Chou J.Y.
|33|Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family. (10385064)
Nakamura T.... Sugimura H.
|34|Glycogen storage disease type IV presenting as hydrops fetalis. (10384399)
Alegria A.... Maire I.
|35|Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene. (9700612)
Huener G.... Demirkol M.
|36|A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. (9758626)
Veiga-da-Cunha M.... Van Schaftingen E.
|37|The gene for glycogen-storage disease type 1b maps to chromosome 11q23. (9463334)
Annabi B.... Chou J.Y.
|38|Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. (9856496)
Ihara K.... Hara T.
|39|Treatment of chronic enteritis in glycogen storage disease type IB with granulocyte colony-stimulating factor. (8732896)
Hoover E.G.... Montes R.G.
|40|Recombinant human G-CSF (Lenograstim) for infectious complications in glycogen storage disease type Ib. Report of 7 cases. (7512258)
Donadieu J.... Tchernia G.
|41|Hepatocellular adenoma in glycogen storage disease type IV. (8285839)
Alshak N.S.... Geller S.A.
|42|Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. (8211187)
Lei K.-J.... Chou J.Y.
|43|Glycogen Storage Disease Type V (20301518)
Pagon R.A.... Stephens K.
|44|Improvement of neutropenia and neutrophil dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Ib. (7680314)
Ishiguro A.... Komiyama A.
|45|Interferon-gamma corrects the respiratory burst defect in vitro in monocyte-derived macrophages from glycogen storage disease type 1b patients. (8134165)
McCawley L.J.... Kilpatrick L.
|46|Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. (1580445)
Coleman R.A.... Chen Y.T.
|47|Granulocyte colony-stimulating factor corrects the neutropenia associated with glycogen storage disease type Ib. (1709246)
Wang W.C.... Keating J.P.
|48|Echocardiographic features in the cardiac type of glycogen storage disease II. (6572589)
Gussenhoven W.J.... de Villeneuve V.H.
|49|Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. (4518931)
Schimke R.N.... Hug G.
|50|Glycogen storage disease previously reported as familial hyperlipidemia. (5215216)
JAKOVCIC S.... Hsia D.Y.