D-Galactose requiring mutants inAspergillus nidulanslacking phosphoglucomutase

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Limitations of galactose therapy in phosphoglucomutase 1 deficiency

INTRODUCTION Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at a dosage of 1 g per kg body weight per day is regarded as the therapy of choice. RESULTS We rep...

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ژورنال

عنوان ژورنال: FEBS Letters

سال: 1979

ISSN: 0014-5793

DOI: 10.1016/0014-5793(79)81076-5