2005
DOI: 10.1097/00001665-200501000-00010
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Unusual Oral Manifestations and Evolution in Glycogen Storage Disease Type Ib

Abstract: Glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate translocase with consequent accumulation of glycogen. The purpose of this study is to report a case affected by glycogen storage disease type Ib in which unusual oral findings were evident and to review the pertinent literature. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, hyperlacticacidemia, neutropenia, and neutrophilic dysfunction causing increased suscep… Show more

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Cited by 19 publications
(20 citation statements)
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“…A rare case of peripheral giant cell lesion associated with this disease has been previously described [11]. The purpose of the present paper is to report a GSD1b patient who presented both peripheral and central giant cell granuloma, and discuss a possible explanation for this unusual finding.…”
Section: Introductionmentioning
confidence: 84%
See 1 more Smart Citation
“…A rare case of peripheral giant cell lesion associated with this disease has been previously described [11]. The purpose of the present paper is to report a GSD1b patient who presented both peripheral and central giant cell granuloma, and discuss a possible explanation for this unusual finding.…”
Section: Introductionmentioning
confidence: 84%
“…Therefore, theoretically, the giant cell lesions reported in the present paper may have developed due to the constant stimulation of osteoclastogenesis induced by the G-CSF. It is important to note that the other case report of peripheral giant cell granuloma associated with GSD 1b found in the literature was also in a patient who was using G-CSF [11]. …”
Section: Discussionmentioning
confidence: 99%
“…When it is important to exclude hyperparathyroidism, laboratory studies including serum calcium, phosphate, alkaline phosphatase and parathyroid hormone are required [9,10] . Recently, PGCG has been reported in a patient with glycogen storage disease type Ib [11] .…”
Section: Discussionmentioning
confidence: 99%
“…The treatment for neutropenia, that is granulocyte colony-stimulating factor, will reduce the frequency of infections [66][67][68].…”
Section: Glycogen Storage Diseasesmentioning
confidence: 99%