|1|Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review. (27139513)
Zhang B.... Zeng X.
|2|Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. (26526422)
Hoogeveen I.J.... Derks T.G.
|3|Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases. (25388549)
Michon C.C.... Laforet P.
|4|Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (25391139)
Quinlivan R.... Schoser B.
|5|Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. (23360637)
Galehdari H.... Baradaran M.
|6|Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population. (22790156)
Bashir M.R.... Kishnani P.S.
|7|Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy. (22932100)
Guo L.L.... Ding G.F.
|8|Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. (19649685)
Strothotte S.... Schoser B.
|9|Late onset glycogen storage disease type II with reducing body-like inclusions. (20040332)
Gayathri N.... Shankar S.K.
|10|Systemic progression of type IV glycogen storage disease after liver transplantation. (20531024)
Willot S.... Martin S.R.
|11|Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (21154353)
Quinlivan R.... Schoser B.
|12|Carbohydrate-response-element-binding protein (ChREBP) and not the liver X receptor I+ (LXRI+) mediates elevated hepatic lipogenic gene expression in a mouse model of glycogen storage disease type 1. (20854262)
Grefhorst A.... Kuipers F.
|13|Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia. (20723115)
Ogawa A.... Kohno Y.
|14|High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. (19362502)
Kumamoto S.... Okumiya T.
|15|A detailed characterization of the adult mouse model of glycogen storage disease Ia. (19581879)
Salganik S.V.... Petersen B.E.
|16|Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. (18996862)
Correia C.E.... Weinstein D.A.
|17|Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene. (17607665)
Li D.Z.... Tang X.W.
|18|Benign course of glycogen storage disease type IIb in two brothers: nature or nurture? (16320310)
Slonim A.E.... DiMauro S.
|19|Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. (15671110)
Mundy H.R.... Lee P.J.
|20|Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings. (15366815)
Teng Y.T.... Huang S.F.
|21|Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation. (14872340)
Adachi M.... Maruya E.
|22|Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (15316959)
Ekstein J.... Risch N.
|23|A simple, rapid test for the differential diagnosis of glycogen storage disease type 3. (12927680)
Bhuiyan J.... Ozand P.T.
|24|Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
Yilmazer T.... Bakker H.D.
|25|Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. (12166582)
Humbert M.... Simonneau G.
|26|Molecular characterization of glycogen storage disease type III. (11949933)
Shen J.J.... Chen Y.T.
|27|Severe pulmonary arterial hypertension in type 1 glycogen storage disease. (12373580)
Humbert M.... Simonneau G.
|28|Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. (12219054)
Schwahn B.... SchAPnau E.
|29|Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). (11738358)
Fernandez-Hojas R.... Hirschhorn R.
|30|Granulocyte-macrophage colony-stimulating factor for treating gastrostomy tube site healing in a child with glycogen storage disease type Ib. (11479417)
Steinmetz B.A.... Roberts R.L.
|31|A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice. (11121425)
Hiraiwa H.... Chou J.Y.
|32|Glycogen storage disease type Ia: molecular study in Brazilian patients. (11310582)
de C Reis F.... Sartorato E.L.
|33|Early-onset lysosomal glycogen storage disease with normal acid maltase. (11596653)
Dayan R.M.... Renaud D.L.
|34|Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease). (11477366)
Gossmann J.... Dietrich C.F.
|35|How many forms of glycogen storage disease type I? (10834514)
Veiga-da-Cunha M.... Van Schaftingen E.
|36|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.
|37|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.
|38|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.
|39|Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (10518030)
Galli L.... Sorrentino V.
|40|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.
|41|Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. (9382133)
Verloes A.... Van Hoof F.
|42|Sweet syndrome associated with G-CSF treatment in a child with glycogen storage disease type Ib. (8604280)
Garty B.Z.... Barak Y.
|43|Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. (8256296)
Willemsen R.... Reuser A.J.
|44|Glucose-6-phosphatase and type 1 glycogen storage disease: some critical considerations. (8391448)
Arion W.J.... Canfield W.K.
|45|Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. (2960695)
Vora S.... Danon M.J.
|46|Lysosomal glycogen storage disease with normal acid maltase. (6450334)
Danon M.J.... Schliselfeld L.H.
|47|Fructose metabolism. IV. Enzyme deficiencies: essential fructosuria, fructose intolerance, and glycogen-storage disease. (4875257)
Herman R.H.... Zakim D.