Genotype-phenotype correlation in Pompe disease, a step forward

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  De Filippi, Paola ^a   Saeidi, Kolsoum ^a   Ravaglia, Sabrina ^b   Dardis, Andrea ^c   Angelini, Corrado ^d   Mongini, Tiziana ^e   Morandi, Lucia ^f   Moggio, Maurizio ^g   Di Muzio, Antonio ^h   Filosto, Massimiliano ⁱ   Bembi, Bruno ^c   Giannini, Fabio ^j   Marrosu, Giovanni ^k   Rigoldi, Miriam ^l   Tonin, Paola ^m   Servidei, Serenella ⁿ   Siciliano, Gabriele ^o   Carlucci, Annalisa ^p   Scotti, Claudia ^a   Comelli, Mario ^a   Toscano, Antonio ^q   Danesino, Cesare ^a   more..

^a UNIVERSITY OF PAVIA   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^d IRCCS SAN CAMILLO HOSPITAL   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY OF CHIETI   (Italy)

ⁱ SPEDALI CIVILI   (Italy)

^j UNIVERSITY OF SIENA   (Italy)

^k UNIVERSITY OF CAGLIARI   (Italy)

^l SAN GERARDO HOSPITAL   (Italy)

^m UNIVERSITY OF VERONA   (Italy)

ⁿ CATHOLIC UNIVERSITY   (Italy)

^o UNIVERSITY OF PISA   (Italy)

^p IRCCS   (Italy)

^q UNIVERSITY OF MESSINA   (Italy)

more..

Author keywords

ACE; ACTN3; GAA; Genetic polymorphisms; Glycogen storage disease type II; Modifier genes

Indexed keywords

ACE GENE; ACTN3 GENE; ADOLESCENT; ADULT; AGED; AGT GENE; ARTICLE; CHILD; FEMALE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA GENE; GENETICS; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE;

ACTININ; ACTN3 PROTEIN, HUMAN; AGT PROTEIN, HUMAN; ANGIOTENSINOGEN; DIPEPTIDYL CARBOXYPEPTIDASE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA;

ACTININ; ANGIOTENSINOGEN; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MUTATION; PEPTIDYL-DIPEPTIDASE A; PHENOTYPE; PPAR ALPHA;

EID: 84908277142     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0102-z     Document Type: Article

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