000 01596 a2200481 4500
005 20250517200139.0
264 0 _c20180214
008 201802s 0 0 eng d
022 _a1536-5964
024 7 _a10.1097/MD.0000000000009186
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMartínez, Miriam
245 0 0 _aInfantile-onset Pompe disease with neonatal debut: A case report and literature review.
_h[electronic resource]
260 _bMedicine
_cDec 2017
300 _ae9186 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Review
650 0 4 _aBiopsy, Needle
650 0 4 _aCardiomyopathy, Hypertrophic
_xetiology
650 0 4 _aDisease Progression
650 0 4 _aFatal Outcome
650 0 4 _aGlycogen Storage Disease Type II
_xcomplications
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aImmunohistochemistry
650 0 4 _aInfant, Newborn
650 0 4 _aInfant, Newborn, Diseases
_xdiagnosis
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aRare Diseases
650 0 4 _aRisk Assessment
650 0 4 _aSeverity of Illness Index
650 0 4 _aVentricular Fibrillation
_xdiagnosis
650 0 4 _aalpha-Glucosidases
_xgenetics
700 1 _aRomero, Mar García
700 1 _aGuereta, Luis García
700 1 _aCabrera, Marta
700 1 _aRegojo, Rita M
700 1 _aAlbajara, Luis
700 1 _aCouce, Maria L
700 1 _aPipaon, Miguel Saenz de
773 0 _tMedicine
_gvol. 96
_gno. 51
_gp. e9186
856 4 0 _uhttps://doi.org/10.1097/MD.0000000000009186
_zAvailable from publisher's website
999 _c28034123
_d28034123