Poll-The, B.T.

patient mutation disease syndrome ficiency syndrome glut 1 glucose seizure ficiency slc 2a gene phenotype neonate study university pompe netherland dutch table children department epilepsy ketogenic diet disorder literature thrombosis p.a 467t mutation hearing pyridoxine-iv retardation center identi fied erasmus university rotterdam glycogen novel dutch patients downloaded range deletion non-classical phenotype non-pde hospital family movement genet storage erasmu brain glycogen storage disease polg mutations blood glucose ratio month child joubert syndrome movement disorders effect carrier analysis identi feature dutch patient group pyridoxine blood activity rotterdam mitochondrial response neurology sequence glucosidase result symptom variant joubert sinovenous thrombosis ataxia klepper p.arg +/– transporter article