|1|Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b. (24401800)
Melis D.... Parenti G.
|2|Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. (24363035)
Sechi A.... Di Rocco M.
|3|A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. (24257475)
Ko J.S.... Park S.S.
|4|Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? (23480859)
Derks T.G.... van Spronsen F.J.
|5|Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. (23318145)
Sun B.... Kishnani P.S.
|6|Catastrophic axial gout causing paraplegia in a patient with glycogen storage disease. (21946469)
Adenwalla H.N.... O'Connor C.R.
|7|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.
|8|Surgical treatment and perioperative management of moyamoya disease associated with glycogen storage disease Type 1a. (21194280)
Egashira Y.... Miyamoto S.
|9|Obesity and reversed growth retardation in a child with type Ia glycogen storage disease. (20662351)
Karnsakul W.... Hummel M.
|10|PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol. (20063322)
Destouni A.... Kanavakis E.
|11|Glycogen storage disease type Ia (GSD Ia) during pregnancy: report of a case complicated by fetal growth restriction and preeclampsia. (21058447)
Yamamoto T.... Sugiura M.
|12|Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). (20331987)
Miwa I.... Takatani T.
|13|Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib. (19008136)
Pan C.J.... Chou J.Y.
|14|Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. (19066956)
Melis D.... Parenti G.
|15|Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III]. (19951465)
Wang X.... Gu X.F.
|16|Clinical and pathological features of glycogen storage disease type III]. (19595259)
Dai Y.J.... Song H.M.
|17|Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. (18785866)
Oh S.H.... Lee S.Y.
|18|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.
|19|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.
|20|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.
|21|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.
|22|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.
|23|Characterization of hepatic and brain metabolism in young adults with glycogen storage disease type 1: a magnetic resonance spectroscopy study. (17785500)
Weghuber D.... Bischof M.G.
|24|Specific reduction of hepatic glucose 6-phosphate transporter-1 ameliorates diabetes while avoiding complications of glycogen storage disease. (17478431)
Sloop K.W.... Michael M.D.
|25|Glycogen storage disease type Ib without hypoglycemia. (17174133)
Kovacevic A.... Schwahn B.
|26|Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. (16987711)
Sun B.... Koeberl D.D.
|27|Secondary diabetes mellitus: late complication of glycogen storage disease type 1b. (16042332)
Spiegel R.... Horovitz Y.
|28|Glycogen storage disease type II diagnosed in a 74-year-old woman. (15161487)
Bosone I.... Silvestri G.
|29|Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). (12576310)
Kuijpers T.W.... Visser G.
|30|Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type Ia. (14581798)
Marfaing-Koka A.... Labrune P.
|31|Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
Yilmazer T.... Bakker H.D.
|32|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.
|33|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.
|34|Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (10982190)
Okubo M.... Murase T.
|35|Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. (10655153)
Shaiu W.L.... Chen Y.T.
|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|Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. (10447271)
Trioche P.... Labrune P.
|38|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.
|39|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.
|40|Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. (9137883)
Okubo M.... Murase T.
|41|Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. (7744838)
Lei K.J.... Chou J.Y.
|42|Glycogen storage disease type Ia in two littermate Maltese puppies. (8578635)
Brix A.E.... Chen Y.T.
|43|Bone mineralisation in type 1 glycogen storage disease. (7545579)
Lee P.J.... Bishop N.J.
|44|Postnatal regression of glucose transport in a patient with glycogen storage disease type 1b. (8051933)
Levy J.... Bashan N.
|45|Glucose-6-phosphatase and type 1 glycogen storage disease: some critical considerations. (8391448)
Arion W.J.... Canfield W.K.
|46|Molecular pathology of hepatic glycogen storage disease]. (8385243)
|47|Uptake and transport of hexoses into polymorphonuclear leukocytes of patients with glycogen storage disease type 1b. (2122079)
Bashan N.... Moses S.W.
|48|Study of liver metabolism in glucose-6-phosphatase deficiency (glycogen storage disease type 1A) by P-31 magnetic resonance spectroscopy. (3163798)
Oberhaensli R.D.... Leonard J.V.
|49|Glycogen storage disease type 1b: genetic disorder involving the transport system of intracellular membrane. (2831040)
Narisawa K.... Tada K.
|50|Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings. (6137804)
Narisawa K.... Kuzuya T.