- A Case of Glycogen Storage Disease Type IIa
-
Choo DH, Kim DK, Moon HR, Kim CK
- KMID: 1698896
- J Korean Pediatr Soc.
- 1984 Jun;27(6):621-627.
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Adult Onset Glycogen Storage Myopathy
-
Shin JH, Kim DG, Shin JY, Park SH, Lee KW
- KMID: 1737970
- Korean J Clin Neurophysiol.
- 2014 Dec;16(2):81-85.
- doi: 10.14253/kjcn.2014.16.2.81
Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis,... -
- CITED
-
- Close
- SHARE
-
- Close
- Hepatic adenomatosis in glycogen storage disease
-
Kwon JE, Park YN
- KMID: 1073336
- Korean J Hepatol.
- 2008 Mar;14(1):108-112.
- doi: 10.3350/kjhep.2008.14.1.108
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Glycogen storage disease type IV: a case report
-
Lee KY, Seo KH, Lee HK, Kim JW
- KMID: 1064972
- J Korean Med Sci.
- 1998 Apr;13(2):211-214.
- doi: 10.3346/jkms.1998.13.2.211
Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old female patient with GSD-IV who exhibited... -
- CITED
-
- Close
- SHARE
-
- Close
- Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V
-
Park HJ, Chang Y, Lee JE, Koo H, Oh J, Choi YC, Park KD
- KMID: 2354128
- J Clin Neurol.
- 2016 Jul;12(3):373-375.
- doi: 10.3988/jcn.2016.12.3.373
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia
-
Lee DG, Park SH, Choi JM, Seo JH, Lee JS, Yang MJ, Kim GT
- KMID: 2081644
- Korean J Med.
- 2009 Apr;76(Suppl 1):S1-S5.
Glycogen storage disease (GSD) type Ia is a rare inherited metabolic disease characterized by glucose-6-phosphatase (G6Pase) deficiency, which results in many metabolic problems, such as fasting hypoglycemia, lactic acidosis, hyperuricemia,... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Glycogen Storage Disease with Hypertrophic Cardiomyopathy
-
Kim DH, Kang SW, Park WJ, Jang KA, Choi JH, Kim W, LEE SH, Hong GR
- KMID: 2049783
- Yeungnam Univ J Med.
- 2006 Dec;23(2):252-257.
- doi: 10.12701/yujm.2006.23.2.252
Glycogen storage diseases are a heterogeneous group of metabolic disorder affecting multiple organ system: liver, skeletal muscle, heart and brain. Clinical features include: short status, hepatomegaly, hypoglycemia, dyslipidemia and rare... -
- CITED
-
- Close
- SHARE
-
- Close
- A case of glycogen storage disease type Ib
-
Kim MS, Park JB, Ki CS, Kim JK
- KMID: 1475789
- Korean J Pediatr.
- 2009 Dec;52(12):1383-1387.
- doi: 10.3345/kjp.2009.52.12.1383
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/microL by the age of... -
- CITED
-
- Close
- SHARE
-
- Close
- Anesthetic Management for the Patient with Von Gierke`s Diseases
-
Choi YR, Choi YK, Kwon MI, Shin KI
- KMID: 2240919
- Korean J Anesthesiol.
- 1981 Jun;14(2):198-203.
Glycogen storage disease is a rare metabolic disorder of significant to the anesthesiologist. The term "glycogen storage disease" is applied to a group of congenital and familial disorders characterised by... -
- CITED
-
- Close
- SHARE
-
- Close
- Glycogen Storage Disease Type II: A Case Report
-
Moon JL, Kang SY, Yang SH, Choe SJ, Lee YS
- KMID: 2174941
- J Korean Acad Rehabil Med.
- 1997 Dec;21(6):1224-1230.
Glycogen Storage Disease Type II is caused by the deficiency of acid maltase resulting in lysosomal accumulation of glycogen. There are two major clinical syndromes, a severe generalized and invariable... -
- CITED
-
- Close
- SHARE
-
- Close
- A case of glycogen storage disease type Ia performed molecular genetic analysis
-
Lee HJ, Eun JR, Jang BI, Lee JH, Lee HW, Choi JH, Ki CS
- KMID: 2256661
- Korean J Med.
- 2006 Jul;71(1):91-96.
Glycogen storage disease type Ia is caused by a deficiency of glucose-6-phosphatase (G6PC), which leads to glycogen accumulation in many organs including liver. We could diagnose a case of glycogen... -
- CITED
-
- Close
- SHARE
-
- Close
- Case report: Liver resection of liver cell adenoma in 3 males
-
Yi SH, Lee SM, Hong SH, Joo HZ
- KMID: 2083090
- Korean J Hepatobiliary Pancreat Surg.
- 1997 Aug;1(2):193-200.
Liver cell adenoma is uncommon and most often affects women of reproductive age; it is often associated with use of oral contraceptives. It is a very rare benign tumor of... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Glycogen Storage Disease Type lb
-
Rhou JY, Park EY, Kim KH, Jo SY, Koo HS
- KMID: 2208311
- J Korean Pediatr Soc.
- 1995 Apr;38(4):545-551.
Glycogen storage disease(GSD) type lis due to defect of glycose-6-phosphatase at the membrane of the endoplasmic reticulum in liver. Clinical presentations of GSD 1 are massive hepatomegaly without splenomegaly, failure... -
- CITED
-
- Close
- SHARE
-
- Close
- Juvenile Pompe Disease with CNS Involvement: A Case Report
-
Kwon T, Lee SY
- KMID: 1928128
- Korean J Leg Med.
- 2003 May;27(1):92-95.
Pompe disease (Glycogenosis type 2) is an autosomal recessive glycogen storage disorder by deficiency of lysosomal acid alpha-glucosidase. The disorder encompasses a range of phenotypes, each including myopathy but differing... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
-
Choi SY, Kang B, Choe JY, Lee Y, Jang HJ, Park HD, Lee SK, Choe YH
- KMID: 2422003
- Pediatr Gastroenterol Hepatol Nutr.
- 2018 Oct;21(4):365-368.
- doi: 10.5223/pghn.2018.21.4.365
Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Type Ia Glycogen Storage Disease
-
Choi YI, Choi YI, Park JW, Chung YS, Kim HJ
- KMID: 2199575
- J Korean Soc Endocrinol.
- 1999 Dec;14(4):786-792.
Glycogen storage diseases are inherited disorders of carbohydrate metabolism caused by a deficiency of enzymes that are involved in degradation of glycogen in the liver. The accumulation of glycogen occurs... -
- CITED
-
- Close
- SHARE
-
- Close
- Glycogen Storage Disease Presenting as Fetal Hydrops: A Case Report
-
Huh R, Ahn SY, Sung SI, Yoo HS, Seo YL, Lee JH, Chang YS, Park WS
- KMID: 2280942
- Korean J Perinatol.
- 2013 Sep;24(3):187-190.
- doi: 10.14734/kjp.2013.24.3.187
Glycogen storage disease (GSD) is a group of heterogeneous disorders of glycogen metabolism that results in abnormal storage of glycogen in multiple organs. Clinical manifestations of GSD vary according to... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia
-
Yu KY, Noh SH, Hwang PH, Kim SJ
- KMID: 1468163
- J Korean Child Neurol Soc.
- 2009 May;17(1):78-83.
Glycogen storage disease(GSD) type Ia is an autosomal recessive disease, caused by the absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa. Glucose-6-phosphatase is an essential... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Glycogen Storage Disease Type IIa
-
Kim YH, Chung SY, Kim JW, Whang KT, Chi JG
- KMID: 1686398
- J Korean Neurol Assoc.
- 1992 Dec;10(4):559-565.
We experienced a case of glycogen storage disease(type Iia) in a 11 months old girl who was admitted to Pediatric service of Kangnam St. Mary's hospital for work-up of flaccidity... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
-
Kim JA, Kim JH, Lee BH, Kim GH, Shin YS, Yoo HW, Kim KM
- KMID: 2315562
- Pediatr Gastroenterol Hepatol Nutr.
- 2015 Jun;18(2):138-143.
- doi: 10.5223/pghn.2015.18.2.138
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually... -
- CITED
-
- Close
- SHARE
-
- Close
