Results 191 to 200 of about 13,856,572 (229)

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

Pediatric and Developmental Pathology, 2019
Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth.
Daniel C, Butler, W Bailey, Glen, Cynthia, Schandl, Angelina, Phillips   +3 more
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Glycogen Storage Disease Type IV

International Journal of Gynecological Pathology, 2016
A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining.
Bendroth-Asmussen, Lisa, Aksglaede, Lise, Gernow, Anne B., Lund, Allan M.   +3 more
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Fatal infantile neuromuscular presentation of glycogen storage disease type IV

Neuromuscular Disorders, 2004
Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme. Typically, glycogen storage disease type IV presents with rapidly progressive liver cirrhosis and death in childhood.
Stacey K H, Tay, Hasan O, Akman, Wendy K, Chung, Michael G, Pike, Francesco, Muntoni, Arthur P, Hays, Sara, Shanske, Stephanie J, Valberg, James R, Mickelson, Kurenai, Tanji, Salvatore, DiMauro   +10 more
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A novel GBE1 gene variant in a child with glycogen storage disease type IV

Human Pathology, 2016
Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system.
Samar M, Said, Marine I, Murphree, Taofic, Mounajjed, Mounif, El-Youssef, Lizhi, Zhang   +4 more
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Non-lethal congenital hypotonia due to glycogen storage disease type IV

American Journal of Medical Genetics Part A, 2006
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains.
T Andrew, Burrow, Robert J, Hopkin, Kevin E, Bove, Lili, Miles, Brenda L, Wong, Arabinda, Choudhary, Deeksha, Bali, Sing Chung, Li, Yuan-Tsong, Chen   +8 more
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A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation

Journal of Child Neurology, 2008
Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype of glycogen storage disease type IV who presented with ...
G Praveen, Raju, Hsin-Chang, Li, Deeksha S, Bali, Yuan-Tsong, Chen, David K, Urion, Hart G W, Lidov, Peter B, Kang   +6 more
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Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

The Journal of Pediatrics, 2004
The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.
Janecke, Andreas R., Dertinger, Susanne, Ketelsen, Uwe-Peter, Bereuter, Lothar, Simma, Burkhard, Müller, Thomas F., Vogel, Wolfgang, Offner, Felix A.   +7 more
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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

Journal of Inherited Metabolic Disease, 2010
AbstractGlycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin‐like glycogen in affected tissues. The accumulated glycogen lacks multiple branch points and thus has longer outer branches and poor solubility, causing ...
Sing-Chung, Li, Chiao-Ming, Chen, Jennifer L, Goldstein, Jer-Yuarn, Wu, Emmanuelle, Lemyre, Thomas Andrew, Burrow, Peter B, Kang, Yuan-Tsong, Chen, Deeksha S, Bali   +8 more
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Studies in Glycogen Storage Disease. IV. Leukocyte phosphorylase in a family with type VI GSD

Metabolism, 1970
Abstract A patient with Type VI Glycogen Storage Disease and members of his family have been studied utilizing leukocyte phosphorylase activities and erythrocyte glycogen levels to help elucidate the mode of inheritance of this disease. Leukocyte phosphorylase activities were found to be low in the patient, his clinically normal brother, parents ...
D, Schwartz, M, Savin, A, Drash, J, Field   +3 more
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Type IV Glycogen-storage Disease: Light-microscopic, Electron-microscopic, and Enzymatic Study

American Journal of Clinical Pathology, 1976
The case of a 14-month-old Latin American girl with the diagnosis of Type IV glycogen-storage disease is reported. The diagnosis was reached on the basis of the typical clinical manifestations, the light- and electron-microscopic findings, and the demonstration of absence of the branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glucosyl transferase ...
G A, Bannayan, W J, Dean, R R, Howell
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