Central nervous involvement is common in PGM1-CDG
نویسندگان
چکیده
منابع مشابه
Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.
OBJECTIVES A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability. The multi-systemic manifestation involving certain distinct clinical features prompted us to search for a subtype of congenital disorders of glycosyl...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2018
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2018.08.008