Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone
Frontiers in Neurology, 2019 Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme.
M. Filosto +10 more
semanticscholar +1 more source
Respiratory distress in a 2-month-old infant: Is the primary cause cardiac, pulmonary or both?
Respiratory Medicine Case Reports, 2018 A 2-month-old female with worsening cough, respiratory distress and an abnormal chest X-ray was referred to our institution for further evaluation of suspected scimitar syndrome.
Nadir Demirel +5 more
doaj +1 more source
Rare case of type II glycogen storage disease [PDF]
, 2015 The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle ...
Khabibullin, R. R. +4 more
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Acta Neuropathologica Communications, 2018 Pompe disease, which is due to acid alpha-glucosidase deficiency, is characterized by skeletal muscle dysfunction attributed to the accumulation of glycogen-filled lysosomes and autophagic buildup.
L. Lagalice +14 more
semanticscholar +1 more source
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]
, 2017 Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D. +10 more
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Frontiers in Aging Neuroscience, 2014 We analyzed the effects of a 4-month resistance (weight lifting) training program followed by a 2-month detraining period in 7 adult McArdle patients (5 female) on: muscle mass (assessed by DXA), strength, serum creatine kinase (CK) activity and clinical
Alfredo eSantalla +7 more
doaj +1 more source
A novel, de novo mutation in PRKAG2 gene:infantile-onset phenotype and signaling pathway involved [PDF]
, 2017 PRKAG2 encodes the γ2-subunit isoform of the 5' AMP-activated protein kinase (AMPK), a heterotrimeric enzyme with major roles in regulation of energy metabolism in response to cellular stress.
Gray, Alex +7 more
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Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. [PDF]
PLoS Genetics, 2009 Mutations in the gene for muscle phosphofructo-1-kinase (PFKM), a key regulatory enzyme of glycolysis, cause Type VII glycogen storage disease (GSDVII).
Miguel García +9 more
doaj +1 more source
GLUCOGENOSIS AS A CAUSE OF INTRAHEPATIC CHOLESTASIS
Annals of Hepatology, 2022 Introduction and Objectives: Hepatic glycogen storage pathologies are very rare diseases among inborn errors of metabolism caused by the alteration of the enzymes involved in the metabolism of glycogen.
K.Y. Santoyo López +1 more
doaj +1 more source
The effect of portacaval transposition on carbohydrate metabolism: Experimental and clinical observations [PDF]
, 1965 An investigation was conducted of the influence of portacaval transposition upon carbohydrate metabolism in 45 dogs. In 17 dogs, hepatic glycogen content was measured before and from 45 to 75 days after transposition.
Faris, TD +6 more
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