Two eminently treatable genetic metabolic myopathies

Neurology India

Volumn 56, Issue 3, 2008, Pages 333-338

  Yee, Woon Chee ^a,b  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b Singapore Health Services   (Singapore)

Author keywords

Acid maltase deficiency; Enzyme replacement therapy; Glutaric aciduria Type II; Human recombinant glucosidase; Multiple Co A dehydrogenase deficiency; Pompe disease; Riboflavin

Indexed keywords

ACYLCARNITINE; ALANINE; ALPHA GLUCOSIDASE; CARBOXYLIC ACID; RIBOFLAVIN;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIETARY INTAKE; DIFFERENTIAL DIAGNOSIS; ENZYME REPLACEMENT; FATTY ACID BLOOD LEVEL; GLUCAN 1,4 ALPHA GLUCOSIDASE DEFICIENCY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; MYOPATHY; PATHOPHYSIOLOGY; REVIEW; TANDEM MASS SPECTROMETRY;

ALPHA-GLUCOSIDASES; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; RECOMBINANT PROTEINS; RIBOFLAVIN; VITAMIN B COMPLEX;

EID: 56049125278     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.43452     Document Type: Review

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