Engelen, B.G. van

patient mutation ficiency syndrome glut 1 disease muscle fatigue syndrome glucose slc 2a gene ficiency phenotype disorder study university ketogenic diet department number range neurology identi fied muscle strength erasmus university rotterdam pompe van der ploeg enzyme replacement therapy non-classical phenotype table movement netherland control blood glucose ratio centre activation failure movement disorders pompe disease identi blood signi ficantly guillain –barre syndrome position brain retardation sumscore hospital analysis force klepper reuser aj group +/– p.arg transporter gbs patients van doorn pa erasmus mc university score ketogenic strength erasmu missense rotterdam glucose transport movement disorder function seizure cramp contraction epilepsy radboud university nijmegen activation ratio novel motor non-classical adult value response conduction failure