Related Experiment Videos

An unusual case of glycogen storage disease

Advances in Experimental Medicine and Biology

|January 1, 1973

Abstract

No abstract available in PubMed .

Related Concept Videos

Articles linked to this work by shared authors, journal, and citation graph.

Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.

Journal of inherited metabolic disease·2004

Neurophysiologic studies in congenital insensitivity to pain with anhidrosis.

Pediatric neurology·2001

Glycogen storage disease type 1a in three siblings with the G270V mutation.

Journal of inherited metabolic disease·1999

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

The Journal of biological chemistry·1999

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

American journal of human genetics·1998

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Journal of inherited metabolic disease·1998

See all related articles