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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Correlation of metabolic myopathy symptoms and signs with specific biochemical defects

Correlation of metabolic myopathy symptoms and signs with specific biochemical defects
Static symptoms and signs
Acid maltase deficiency
Branching enzyme deficiency
Debranching enzyme deficiency
Carnitine transport defect
LCAD, VLCAD deficiencies
Trifunctional enzyme deficiency
Mitochondrial disorders
Dynamic symptoms and signs
Phosphorylase b kinase deficiency
Myophosphorylase (PPL) deficiency
Phosphofructokinase (PFK) deficiency
Phosphoglycerate kinase (PGK) deficiency
Lactate dehydrogenase (LDH) deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency
Fatty acid oxidation/mitochondrial defects
Static and dynamic symptoms and signs
Myophosphorylase deficiency
PFK, PPL b kinase deficiencies (plus fixed weakness)
Debranching enzyme deficiency (plus dynamic symptoms)
LCAD, VLCAD, SCHAD deficiencies
Trifunctional enzyme deficiency
Multiple mitochondrial DNA deletions
LCAD: long-chain acyl-CoA dehydrogenase; VLCAD: very long-chain acyl-CoA dehydrogenase; SCHAD: short-chain 3-hydroxyacyl-CoA dehydrogenase.
Graphic 59733 Version 3.0