|1.||Chen, Yuan-Tsong: 5 articles (02/2012 - 04/2006)|
|2.||Morandi, L: 3 articles (03/2014 - 01/2004)|
|3.||Dimauro, Salvatore: 3 articles (10/2013 - 10/2006)|
|4.||Bali, Deeksha S: 3 articles (02/2012 - 03/2008)|
|5.||Akman, H Orhan: 3 articles (11/2011 - 10/2006)|
|6.||DiMauro, S: 3 articles (12/2010 - 09/2004)|
|7.||Bruno, C: 3 articles (07/2007 - 01/2004)|
|8.||Sheiko, Tatiana: 2 articles (12/2015 - 11/2011)|
|9.||DiMauro, Salvatore: 2 articles (12/2015 - 04/2004)|
|10.||Craigen, William J: 2 articles (12/2015 - 11/2011)|
|1.||Glycogen Storage Disease (Glycogenosis)
10/01/1989 - "Glycogen storage disease was suspected, however, biochemical study of the muscle specimen disclosed no enzymatic defect including branching enzyme.(ABSTRACT TRUNCATED AT 250 WORDS)"
03/16/1983 - "Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease."
06/01/1968 - "Branching enzyme-deficiency glycogenosis: studies in therapy."
09/21/2012 - "Mutations of the glycogen branching enzyme gene, GBE1, result in glycogen storage disease (GSD) type IV, an autosomal recessive disorder having multiple clinical forms. "
11/01/2004 - "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. "
|2.||Muscle Hypotonia (Hypotonia)
12/01/2010 - "Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies."
01/01/1994 - "A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms of severe hypotonia pre- and postnatally, and dilated cardiomyopathy in early infancy. "
12/01/2010 - "The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. "
01/01/2004 - "Determination of branching enzyme activity, in cultured fibroblasts from the second patient, showed markedly reduced enzyme activity, confirming diagnosis of glycogenosis type IV. Our patients showed the full spectrum of both prenatal signs (hydrops, polyhydramnios) and postnatal signs (hypotonia, hyporeflexia, absence of active movements, cardiomegaly), which have been reported previously. "
07/01/1987 - "These studies show that cardiomyopathy can be the first symptom of generalized branching enzyme deficiency and that the degree of accumulation of the abnormal polysaccharide may vary in different tissues."
01/01/1993 - "We, therefore, report on a 19-year-old male with complete branching enzyme deficiency presenting with severe myopathy, dilative cardiomyopathy, heart failure, dysmorphic features, and subclinical neuropathy. "
01/01/1980 - "Polyglucose particles histochemically synthesized from glucose 1-phosphate by phosphorylase and branching glycosyltransferase were observed in the gastric carcinoma cells, in intestinal metaplastic epithelium of the gastric mucosa and in fetal epithelium of the fetal gastric mucosa by light and electron microscopical studies. "
|5.||Glycogen Storage Disease Type IV (Andersen's Disease)
12/01/2015 - "Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). "
02/01/2012 - "Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. "
11/15/2011 - "Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen branching enzyme (GBE). "
02/01/2009 - "A fatal neonatal polysystemic type IV glycogenosis, inherited recessively in affected Quarter Horse foals, is due to a mutation in the glycogen branching enzyme gene (GBE1). "
01/01/2008 - "Glycogenosis type IV is caused by a deficiency of glycogen branching enzyme (alpha-1,4 glucan 6-transglucosylase). "
|5.||1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)
|8.||Small Interfering RNA (siRNA)
|9.||Complementary DNA (cDNA)
|10.||Uridine Triphosphate (UTP)