|1|Glycogen Storage Disease Type I Presenting with Hypertension During Infancy. (25735438)
Bhowmik E.... Mondal R.
|2|Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II]. (26575883)
Zhang L.... Zhang S.J.
|3|Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (25391139)
Quinlivan R.... Schoser B.
|4|Pregnancy in women with glycogen storage disease Ia and Ib. (24476649)
Ferrecchia I.A.... Weinstein D.A.
|5|Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population. (22790156)
Bashir M.R.... Kishnani P.S.
|6|Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy. (22932100)
Guo L.L.... Ding G.F.
|7|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.
|8|Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. (22185325)
Demaster A.... Koeberl D.D.
|9|Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. (21730973)
Luo X.... Koeberl D.D.
|10|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.
|11|Late onset glycogen storage disease type II with reducing body-like inclusions. (20040332)
Gayathri N.... Shankar S.K.
|12|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.
|13|Activation of glycolysis and apoptosis in glycogen storage disease type Ia. (19419892)
Sun B.... Koeberl D.D.
|14|Hepatocellular carcinoma in an adult patient with type IV glycogen storage disease. (19902877)
Onal I.K.... Sasmaz N.
|15|The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. (18337460)
Chen S.Y.... Chou J.Y.
|16|Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control. (18709545)
Bernier A.V.... Weinstein D.A.
|17|Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. (17307551)
Melis D.... Andria G.
|18|Glycogen storage disease type IX: High variability in clinical phenotype. (17689125)
Beauchamp N.J.... Sharrard M.
|19|Molecular genetics of late onset glycogen storage disease II in Italy. (17915575)
Pittis M.G.... Filocamo M.
|20|Benign course of glycogen storage disease type IIb in two brothers: nature or nurture? (16320310)
Slonim A.E.... DiMauro S.
|21|Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]. (16494802)
Joensen F.... Rasmussen N.H.
|22|Acute pancreatitis after anesthesia with propofol in a child with glycogen storage disease type IA. (16719886)
Bustamante S.E.... Appachi E.
|23|Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (15316959)
Ekstein J.... Risch N.
|24|A simple, rapid test for the differential diagnosis of glycogen storage disease type 3. (12927680)
Bhuiyan J.... Ozand P.T.
|25|Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. (12534929)
Iida S.... Noda S.
|26|Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene. (12601120)
Lam C.W.... Martiniuk F.
|27|Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. (12166582)
Humbert M.... Simonneau G.
|28|Molecular characterization of glycogen storage disease type III. (11949933)
Shen J.J.... Chen Y.T.
|29|Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. (12219054)
Schwahn B.... SchAPnau E.
|30|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.
|31|Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (12409273)
Yuen Y.-P.... Lam C.-W.
|32|Radical trapping in glycogen storage disease 1a. (12373576)
Wittenstein B.... KohlschA1tter A.
|33|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.
|34|Early-onset lysosomal glycogen storage disease with normal acid maltase. (11596653)
Dayan R.M.... Renaud D.L.
|35|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.
|36|Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (10518030)
Galli L.... Sorrentino V.
|37|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.
|38|Glycogen storage disease type IV: a case report. (9610625)
Lee K.Y.... Kim J.W.
|39|A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. (9506659)
Keller K.M.... Shin Y.S.
|40|Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. (9598717)
Fenske C.D.... Lee P.J.
|41|Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. (10737124)
Vorgerd M.... Kilimann M.W.
|42|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.
|43|Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. (9382133)
Verloes A.... Van Hoof F.
|44|Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. (9259982)
Kishnani P.S.... Chen Y.T.
|45|Sweet syndrome associated with G-CSF treatment in a child with glycogen storage disease type Ib. (8604280)
Garty B.Z.... Barak Y.
|46|A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (8702417)
Okubo M.... Murase T.
|47|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.
|48|Glucose-6-phosphatase and type 1 glycogen storage disease: some critical considerations. (8391448)
Arion W.J.... Canfield W.K.
|49|Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. (8211187)
Lei K.-J.... Chou J.Y.
|50|Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity. (2785037)
Heyne K.... Henke-Wolter J.