|1|Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. (23360637)
Galehdari H.... Baradaran M.
|2|Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? (23507172)
Preisler N.... LaforA-t P.
|3|Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. (24363035)
Sechi A.... Di Rocco M.
|4|Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. (22305237)
Magoulas P.L.... Craigen W.J.
|5|Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. (21075835)
Lee Y.C.... Yan Y.T.
|6|Novel mutations in the gene encoding acid I+-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. (22185990)
Muraoka T.... Ishida T.
|7|Acoustic accessibility investigation for ultrasound mediated treatment of glycogen storage disease type Ia patients. (21767906)
Wang S.... Seip R.
|8|Late onset glycogen storage disease type II with reducing body-like inclusions. (20040332)
Gayathri N.... Shankar S.K.
|9|Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. (19749120)
Yu X.... Du J.
|10|Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]. (19951495)
Wang W.... Li F.
|11|Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? (18437526)
Melis D.... Andria G.
|12|An adult case of glycogen storage disease type IIIa. (18617770)
Kim K.O.... Choi J.H.
|13|Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. (18458862)
Wan L.... Tsai F.J.
|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. (18717245)
Seigel J.... Bachrach B.
|15|Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. (18520334)
Bandsma R.H.... Kuipers F.
|16|Placental involvement in glycogen storage disease type IV. (18289670)
Konstantinidou A.E.... Patsouris E.
|17|Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction. (17187242)
D'Eufemia P.... Lenti L.
|18|Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients. (16777453)
Nguyen A.D.... Chou J.Y.
|19|Increased cellular cholesterol efflux in glycogen storage disease type Ia mice: a potential mechanism that protects against premature atherosclerosis. (16098970)
Nguyen A.D.... Chou J.Y.
|20|Glycogen storage disease type III in Inuit children. (15684118)
Zimakas P.J.... Rodd C.J.
|21|Fatal infantile neuromuscular presentation of glycogen storage disease type IV. (15019703)
Tay S.K.... DiMauro S.
|22|Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. (15151508)
Ki C.S.... Park J.Y.
|23|Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. (12424192)
Leuzzi R.... Fulceri R.
|24|Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence. (12373569)
DAoublin G.... Wendel U.
|25|Dental disease indices and caries-related microflora in children with glycogen storage disease. (11853251)
Kidd S.A.... Lucas V.S.
|26|Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II. (11854868)
Huie M.L.... Hirschhorn R.
|27|Glycogen storage disease types 1 and 2: recent developments, management and outcome. Proceedings of an international symposium. Fulda, Germany, November 2000. (12373564) |2002|
|28|Identification of a novel missense mutation (T16A) in the glucose-6- phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease). (10738005)
Wu M.-C.... Wu J.-Y.
|29|Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (10571954)
Okubo M.... Murase T.
|30|Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. (10094563)
Rake J.P.... Scheffer H.
|31|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.
|32|Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. (9535769)
Huie M.L.... Hirschhorn R.
|33|Glycogen storage disease and von Willebrand's disease implications for dental treatment: dental management of a pediatric patient. (10483452)
Dellinger T.M.... Streckfus C.F.
|34|The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II. (10206684)
Beesley C.E.... Yacoub M.Y.
|35|Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. (9675154)
Kure S.... Narisawa K.
|36|Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha- glucosidase gene. (9660056)
Kroos M.A.... Hermans M.M.P.
|37|Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. (9332655)
Parvari R.... Moses S.W.
|38|A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (8990006)
Shen J.... Chen Y.T.
|39|Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients. (9196050)
Nicolino M.... Poenaru L.
|40|Immune deficiency in glycogen storage disease type 1B. (9007171)
Garty B.Z.... Danon Y.L.
|41|Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. (7623438)
Parvari R.... Bashan N.
|42|Recombinant human G-CSF (Lenograstim) for infectious complications in glycogen storage disease type Ib. Report of 7 cases. (7512258)
Donadieu J.... Tchernia G.
|43|Impairment of calcium mobilization in phagocytic cells in glycogen storage disease type 1b. (8319725)
Korchak H.M.... Kilpatrick L.
|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|Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. (1533013)
Amit R.... Moses S.
|47|Chronic inflammatory bowel disease in glycogen storage disease type 1B. (1779622)
Sanderson I.R.... Leonard J.V.
|48|Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. (2295969)
Ding J.H.... Chen Y.T.
|49|Glycogen storage disease type 1b: genetic disorder involving the transport system of intracellular membrane. (2831040)
Narisawa K.... Tada K.
|50|Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (6962066)
SA... Maehle B.