Infantile and adult‐onset acid maltase deficiency occurring in the same family
- 1 March 1979
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 29 (3) , 415
- https://doi.org/10.1212/wnl.29.3.415
Abstract
A 16 wk old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid .alpha.-glucosidase deficiency). Her paternal grandfather was well until the age of 53 yr, when he started to suffer from the adult-onset form of the same enzyme deficiency. The infantile and adult-onset forms of acid maltase deficiency may be genetically related.This publication has 2 references indexed in Scilit:
- Residual acid maltase activity in late‐onset acid maltase deficiencyNeurology, 1977
- Methods for analysis of acid alpha-1,4-glucosidase activity in single hybrid cells.Journal of Histochemistry & Cytochemistry, 1976