000 01939 a2200601 4500
005 20250517234157.0
264 0 _c20191105
008 201911s 0 0 eng d
022 _a1573-2665
024 7 _a10.1007/s10545-018-0243-7
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSemplicini, Claudio
245 0 0 _aLate-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
_h[electronic resource]
260 _bJournal of inherited metabolic disease
_c11 2018
300 _a937-946 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAge of Onset
650 0 4 _aAged
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCohort Studies
650 0 4 _aDelayed Diagnosis
650 0 4 _aFemale
650 0 4 _aFrance
_xepidemiology
650 0 4 _aGenetic Association Studies
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aGlycogen Storage Disease Type II
_xepidemiology
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation
650 0 4 _aYoung Adult
650 0 4 _aalpha-Glucosidases
_xgenetics
700 1 _aLetard, Pascaline
700 1 _aDe Antonio, Marie
700 1 _aTaouagh, Nadjib
700 1 _aPerniconi, Barbara
700 1 _aBouhour, Françoise
700 1 _aEchaniz-Laguna, Andoni
700 1 _aOrlikowski, David
700 1 _aSacconi, Sabrina
700 1 _aSalort-Campana, Emmanuelle
700 1 _aSolé, Guilhem
700 1 _aZagnoli, Fabien
700 1 _aHamroun, Dalil
700 1 _aFroissart, Roseline
700 1 _aCaillaud, Catherine
700 1 _aLaforêt, Pascal
773 0 _tJournal of inherited metabolic disease
_gvol. 41
_gno. 6
_gp. 937-946
856 4 0 _uhttps://doi.org/10.1007/s10545-018-0243-7
_zAvailable from publisher's website
999 _c28776846
_d28776846