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

Year Number of Results
1976 1
1989 1
1992 1
1998 1
2002 2
2003 2
2004 1
2006 2
2007 3
2008 3
2009 1
2011 1
2012 1
2013 2
2014 2
2015 1
2016 2
2018 2
2019 4
2020 4
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2023 3
2024 0

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40 results

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Page 1
Newborn screening of neuromuscular diseases.
Dangouloff T, Boemer F, Servais L. Dangouloff T, et al. Neuromuscul Disord. 2021 Oct;31(10):1070-1080. doi: 10.1016/j.nmd.2021.07.008. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34620514 Free article. Review.
A systematic review of the literature in PubMed up to May 1, 2021, was conducted according to PRISMA guidelines, including classical neuromuscular diseases and diseases with a clear peripheral nervous system involvement (including central nervous system disease with severe …
A systematic review of the literature in PubMed up to May 1, 2021, was conducted according to PRISMA guidelines, including classical neuromu …
Glycogen storage diseases.
Hug G. Hug G. Birth Defects Orig Artic Ser. 1976;12(6):145-75. Birth Defects Orig Artic Ser. 1976. PMID: 788807 Review.
Each of 12 types of glycogen storage disease (GSD O-XI) is delineated by clinical, biochemical and histologic features that allow its identification in future patients. ...GSD IIa is the infantile fatal form with cardiomegaly, increased cardiac glycogen
Each of 12 types of glycogen storage disease (GSD O-XI) is delineated by clinical, biochemical and histologic features …
Review: Danon disease: Review of natural history and recent advances.
Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Neuropathol Appl Neurobiol. 2020 Jun;46(4):303-322. doi: 10.1111/nan.12587. Epub 2019 Nov 25. Neuropathol Appl Neurobiol. 2020. PMID: 31698507 Review.
The disease is inherited as an X-linked dominant trait. The primary deficiency of lysosome-associated membrane protein-2 (LAMP-2) causes disruption of autophagy, leading to an impaired fusion of lysosomes to autophagosomes and biogenesis of lysosomes. We surveyed ov …
The disease is inherited as an X-linked dominant trait. The primary deficiency of lysosome-associated membrane protein-2 (LAMP …
Biomarkers in Glycogen Storage Diseases: An Update.
Molares-Vila A, Corbalán-Rivas A, Carnero-Gregorio M, González-Cespón JL, Rodríguez-Cerdeira C. Molares-Vila A, et al. Int J Mol Sci. 2021 Apr 22;22(9):4381. doi: 10.3390/ijms22094381. Int J Mol Sci. 2021. PMID: 33922238 Free PMC article. Review.
Glycogen storage diseases (GSDs) are a group of 19 hereditary diseases caused by a lack of one or more enzymes involved in the synthesis or degradation of glycogen and are characterized by deposits or abnormal types of glycogen in tissues. Their freque
Glycogen storage diseases (GSDs) are a group of 19 hereditary diseases caused by a lack of one or more enzymes involved in the
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutropenia present in Glycogen
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglut …
Autophagic vacuolar myopathy.
Nishino I. Nishino I. Semin Pediatr Neurol. 2006 Jun;13(2):90-5. doi: 10.1016/j.spen.2006.06.004. Semin Pediatr Neurol. 2006. PMID: 17027858 Review.
However, they are also pathognomonic morphologic hallmarks in a slowly emerging new group of conditions called autophagic vacuolar myopathies (AVMs), of which Danon disease, originally called "lysosomal glycogen storage disease with normal acid maltase …
However, they are also pathognomonic morphologic hallmarks in a slowly emerging new group of conditions called autophagic vacuolar myopathie …
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS. Shin YS. Semin Pediatr Neurol. 2006 Jun;13(2):115-20. doi: 10.1016/j.spen.2006.06.007. Semin Pediatr Neurol. 2006. PMID: 17027861 Review.
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and divided into types 0 to X. ...GSD type IV, Andersen disease or amylopectinosis, is caused by deficiency of th
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED. Hong KN, et al. J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. J Am Coll Cardiol. 2023. PMID: 37821174 Free article. Review.
Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic manifestations. ...Herein, the authors review the differential diagno …
Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be …
Primary periodic paralyses.
Finsterer J. Finsterer J. Acta Neurol Scand. 2008 Mar;117(3):145-58. doi: 10.1111/j.1600-0404.2007.00963.x. Epub 2007 Nov 20. Acta Neurol Scand. 2008. PMID: 18031562 Review.
Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyrotoxic PP, distal renal tubular acidosis, X-linked episodic muscle weakness syndrome and congenital myasthenic syndromes. ...
Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyrotoxic …
[Metabolic myopathies].
Papazian Ó, Rivas-Chacón R. Papazian Ó, et al. Rev Neurol. 2013 Sep 6;57 Suppl 1:S65-73. Rev Neurol. 2013. PMID: 23897158 Free article. Review. Spanish.
The conditions in the first group in order of decreasing frequency are the deficiencies of myophosforilase (GSD V), muscle phosphofructokinase (GSD VII), phosphoglycerate mutase 1 (GSD X) and beta enolase (GSD XIII). The conditions in the second group in order of decreasin …
The conditions in the first group in order of decreasing frequency are the deficiencies of myophosforilase (GSD V), muscle phosphofructokina …
40 results