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Myoadenylate deaminase deficiency with severe rhabdomyolysis
A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she...
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Ergometer exercise in myoadenylate deaminase deficient patients
Three patients with primary myoadenylate deaminase deficiency were subjected to exercise on a bicycle ergometer at 125 W for 30 minutes. Blood...
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The Genetic Basis of Myoadenylate Deaminase Deficiency in Man
Adenosine monophosphate deaminase (AMPD) catalyzes the deamination of AMP to inosine monophosphate (IMP) with the subsequent liberation of ammonia.... -
Clinical Aspects and Biochemical Basis of AMP Deaminase Deficiency: A Clinician’s Point of View
In 1978 adenosine monophosphate (AMP) deaminase deficiency in skeletal muscle (“myoadenylate deaminase deficiency”) was described as a new entity by... -
Conversion of human interferon-β from a secreted to a phosphatidylinositol anchored protein by fusion of a 17 amino acid sequence to its carboxyl terminus
A number of cell-surface proteins are anchored in plasma membranes by a glycosylated phosphatidylinositol (PI) moiety that is covalently attached to...
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Molecular Analysis of Acquired Myoadenylate Deaminase Deficiency in Polymyositis (Idiopathic Inflammatory Myopathy)
Myoadenylate deaminase (mAMPD) deficiency occurs in primary (inherited) and secondary (acquired) forms (1). Clinically, inherited mAMPD deficiency is... -
Molecular Forms of Human Kidney AMP-Deaminase
AMP-deaminase (EC 3.5.4.6) - the enzyme catalyzing hydrolytic deamination of adenylic acid is widely distributed in vertebrate tissues.