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

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34 results

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Page 1
Glycogen storage diseases: new perspectives.
Ozen H. Ozen H. World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. World J Gastroenterol. 2007. PMID: 17552001 Free PMC article. Review.
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...Type II is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. ...
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...Type II is a protot …
Metabolic Myopathies.
Tarnopolsky MA. Tarnopolsky MA. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851. doi: 10.1212/CON.0000000000000403. Continuum (Minneap Minn). 2016. PMID: 27922496 Review.
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and t …
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycoly …
Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic …
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may …
The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.
Reason SL, Godfrey RJ. Reason SL, et al. Curr Opin Endocrinol Diabetes Obes. 2020 Oct;27(5):283-290. doi: 10.1097/MED.0000000000000567. Curr Opin Endocrinol Diabetes Obes. 2020. PMID: 32773572 Review.
PURPOSE OF REVIEW: To explore the potential of a low carbohydrate ketogenic diet (LCKD) to counter physical activity intolerance, pain and muscle damage for glycogen storage disease (GSD) V and VII, and highlight the realistic possibility that nutritio …
PURPOSE OF REVIEW: To explore the potential of a low carbohydrate ketogenic diet (LCKD) to counter physical activity intolerance, pain and m …
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.
GSD type IV, Andersen disease or amylopectinosis, is caused by deficiency of the glycogen-branching enzyme in numerous forms. ...GSD type VI is characterized by liver phosphorylase deficiency. GSD type VII, phosphofructokinase deficiency, …
GSD type IV, Andersen disease or amylopectinosis, is caused by deficiency of the glycogen-branching enzyme in numerous …
[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 first group in order of decreasing frequency are the deficiencies of myophosforilase (GSD V), muscle phosphofructokina …
Tarui disease and distal glycogenoses: clinical and genetic update.
Toscano A, Musumeci O. Toscano A, et al. Acta Myol. 2007 Oct;26(2):105-7. Acta Myol. 2007. PMID: 18421897 Free PMC article. Review.
Since the discovery of the disease, in 1965, a wide range of biochemical, physiological and molecular studies have greatly contributed to our knowledge concerning not only phosphofructokinase function in normal muscle but also on the general control of glycolysis and gl …
Since the discovery of the disease, in 1965, a wide range of biochemical, physiological and molecular studies have greatly contribute …
[Phosphofructokinase (PFK)].
Yamasaki T, Nakajima H. Yamasaki T, et al. Nihon Rinsho. 2004 Dec;62 Suppl 12:835-9. Nihon Rinsho. 2004. PMID: 15658463 Review. Japanese. No abstract available.
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.
Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR. Parker EI, et al. Br J Radiol. 2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14. Br J Radiol. 2014. PMID: 24234586 Free PMC article. Review.
Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. ...In this review, the key imaging features of the non …
Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal materi …
34 results