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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1966 1
1969 1
1970 2
1972 1
1974 4
1975 2
1976 3
1977 3
1978 3
1979 1
1980 4
1981 1
1982 5
1983 3
1984 5
1985 6
1986 4
1987 4
1988 4
1989 5
1990 9
1991 6
1992 6
1993 7
1994 12
1995 14
1996 9
1997 6
1998 16
1999 20
2000 20
2001 11
2002 14
2003 12
2004 20
2005 15
2006 22
2007 28
2008 22
2009 28
2010 32
2011 41
2012 50
2013 41
2014 42
2015 39
2016 29
2017 37
2018 45
2019 45
2020 55
2021 35
2022 37
2023 34
2024 20

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833 results

Results by year

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Page 1
Glycogen storage diseases.
Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J. Hannah WB, et al. Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. Nat Rev Dis Primers. 2023. PMID: 37679331 Review.
Progress in diagnosis, management and definitive therapies affects the natural course and hence morbidity and mortality. The natural history of GSDs is still being described. ...
Progress in diagnosis, management and definitive therapies affects the natural course and hence morbidity and mortality. The natural …
Pompe's disease.
van der Ploeg AT, Reuser AJ. van der Ploeg AT, et al. Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. Lancet. 2008. PMID: 18929906 Review.
Glycogen storage diseases: An update.
Gümüş E, Özen H. Gümüş E, et al. World J Gastroenterol. 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. World J Gastroenterol. 2023. PMID: 37476587 Free PMC article. Review.
Since early diagnosis and aggressive treatment are related to better prognosis, physicians should be aware of these conditions and include GSDs in the differential diagnosis of patients with relevant manifestations including fasting hypoglycemia, hepatomegaly, hypertransam …
Since early diagnosis and aggressive treatment are related to better prognosis, physicians should be aware of these conditions and in …
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Meena NK, Raben N. Meena NK, et al. Biomolecules. 2020 Sep 18;10(9):1339. doi: 10.3390/biom10091339. Biomolecules. 2020. PMID: 32962155 Free PMC article. Review.
The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and moti …
The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural …
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A. Massese M, et al. Orphanet J Rare Dis. 2022 Jun 20;17(1):241. doi: 10.1186/s13023-022-02387-6. Orphanet J Rare Dis. 2022. PMID: 35725468 Free PMC article. Review.
CONCLUSIONS: Early diagnosis allows a good metabolic control, with improvement of quality of life and prognosis, therefore we underline the importance of building a proper knowledge among physicians about these rare conditions. ...
CONCLUSIONS: Early diagnosis allows a good metabolic control, with improvement of quality of life and prognosis, therefore we underli …
Pediatric hepatocellular carcinoma.
Khanna R, Verma SK. Khanna R, et al. World J Gastroenterol. 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. World J Gastroenterol. 2018. PMID: 30254403 Free PMC article. Review.
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
Combined liver-kidney grafts have been performed in a few cases. Prognosis is usually good: late hepatic and renal complications may occur, however, with adapted management, patients have almost normal life span. ...
Combined liver-kidney grafts have been performed in a few cases. Prognosis is usually good: late hepatic and renal complications may …
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML. Muzetti JH, et al. Front Endocrinol (Lausanne). 2021 May 21;12:685272. doi: 10.3389/fendo.2021.685272. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34093448 Free PMC article.
The mutations and clinical chronology were related to the disease course and neuroimaging findings. Adequate metabolic control was achieved in 67% of patients (GSD I, 43%; GSD IX, 100%). ...
The mutations and clinical chronology were related to the disease course and neuroimaging findings. Adequate metabolic control was ac …
Pregnancy in women with glycogen storage disease Ia and Ib.
Ferrecchia IA, Guenette G, Potocik EA, Weinstein DA. Ferrecchia IA, et al. J Perinat Neonatal Nurs. 2014 Jan-Mar;28(1):26-31. doi: 10.1097/JPN.0000000000000017. J Perinat Neonatal Nurs. 2014. PMID: 24476649 Review.
833 results