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Radiology, 2023
An 18-year-old man presented to the neurosurgery outpatient department with recurrent episodes of epistaxis for the past 8 years and altered behavior for the past month. Epistaxis was scanty in amount, intermittent, spontaneous, and not associated with any trauma or nasal obstruction or breathing difficulties.
Priyanka Garg +4 more
openaire +2 more sources
An 18-year-old man presented to the neurosurgery outpatient department with recurrent episodes of epistaxis for the past 8 years and altered behavior for the past month. Epistaxis was scanty in amount, intermittent, spontaneous, and not associated with any trauma or nasal obstruction or breathing difficulties.
Priyanka Garg +4 more
openaire +2 more sources
Neuromuscular Disorders, 2014
Recessive mutations in the guanosine diphosphate mannose pyrophosphorylase B (GMPPB) gene have recently been reported to cause muscular dystrophies with hypoglycosylation of alpha-dystroglycan. Associated phenotypes range from severe congenital muscular dystrophies with structural brain involvement to limb girdle muscular dystrophy (LGMD).
M. Sframeli +11 more
openaire +1 more source
Recessive mutations in the guanosine diphosphate mannose pyrophosphorylase B (GMPPB) gene have recently been reported to cause muscular dystrophies with hypoglycosylation of alpha-dystroglycan. Associated phenotypes range from severe congenital muscular dystrophies with structural brain involvement to limb girdle muscular dystrophy (LGMD).
M. Sframeli +11 more
openaire +1 more source
2015
https://corescholar.libraries.wright.edu/special_ms223_photographs/1557/thumbnail ...
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https://corescholar.libraries.wright.edu/special_ms223_photographs/1557/thumbnail ...
openaire +1 more source