MOLECULAR STUDIES OF GLYCOGEN STORAGE DISEASE TYPE II

$0M01FY2000RRNIH

New York University School Of Medicine, New York NY

Investigators

Linked publications & trials

Paper 38712163 Paper 32400971 Paper 32388509 Paper 30689585 Paper 28183528 Paper 27036079 Paper 27001614 Paper 26827652 Paper 26449541 Paper 26366463 Paper 26092349 Paper 26079503 Paper 26079416 Paper 25778476 Paper 25663231 Paper 25572087 Paper 25531812 Paper 25199842 Paper 25188341 Paper 24925880 Paper 24795354 Paper 24736183 Paper 24260125 Paper 24244562 Paper 24144899 Paper 23944767 Paper 23907679 Paper 23673467 Paper 23571587 Paper 23565137 Paper 23419804 Paper 23360175 Paper 23169101 Paper 23143602 Paper 23068916 Paper 23055555 Paper 23028556 Paper 22869155 Paper 22695340 Paper 22685416 Paper 22585765 Paper 22505863 Paper 22503001 Paper 22294817 Paper 22257000 Paper 22020091 Paper 22019225 Paper 22019221 Paper 21968671 Paper 21966427 Paper 21941167 Paper 21900087 Paper 21841246 Paper 21786117 Paper 21775922 Paper 21742304 Paper 21554737 Paper 21532539 Paper 21514691 Paper 21460841 Paper 21396623 Paper 21391952 Paper 21344056 Paper 21339641 Paper 21316814 Paper 21293986 Paper 21274294 Paper 21233301 Paper 21069334 Paper 20939094 Paper 20921898 Paper 20878462 Paper 20871389 Paper 20847343 Paper 20837357 Paper 20827170 Paper 20825306 Paper 20817151 Paper 20807066 Paper 20697030 Paper 20672447 Paper 20662716 Paper 20650002 Paper 20622678 Paper 20531015 Paper 20524222 Paper 20511180 Paper 20504322 Paper 20495438 Paper 20467286 Paper 20459885 Paper 20436781 Paper 20406333 Paper 20400411 Paper 20400410 Paper 20399927 Paper 20338687 Paper 20309924 Paper 20237308 Paper 20235838

Abstract

This project aims to identify additional novel mutations in patients with different phenotypes of acid maltase deficiency. It also seeks to further investigations of the relationships between mutation, enzyme activity and phenotype.

View original record on NIH RePORTER →