Combination of two different homozygote mutations in Pompe disease

Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1‐glucosidase enzyme. Here we report the case of an 8‐month‐old girl of consanguineous Turkish parents, who was diagnosed...

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Bibliographic Details
Published in:	Pediatrics international Vol. 58; no. 3; pp. 241 - 243
Main Authors:	Arslan, Alev, Poyrazoğlu, Hatice Gamze, Kiraz, Aslihan, Özcan, Alper, Işık, Halid, Ergul, Ayse Betül, Mungan, Neslihan Önenli, Streubel, Berthold, Ceylaner, Serdar, Altuner Torun, Yasemin
Format:	Journal Article
Language:	English
Published:	Australia Blackwell Publishing Ltd 01-03-2016
Subjects:	alpha-Glucosidases - genetics alpha-Glucosidases - metabolism DNA - genetics DNA Mutational Analysis Female Genetic Predisposition to Disease Glucosidase Glycogen Glycogen Storage Disease Type II - genetics Hereditary diseases Homozygote Humans hypertrophic cardiomyopathy Infant infantile Pompe disease Metabolic disorders Mutation novel mutation Pediatrics Phenotype infantile Pompe disease novel mutation hypertrophic cardiomyopathy
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