Genotype-phenotype correlation in Pompe disease, a step forward

P De Filippi; K Saeidi; S Ravaglia; A Dardis; C Angelini; T Mongini; L Morandi; M Moggio; A Di Muzio; M Filosto; B Bembi; F Giannini; G Marrosu; M Rigoldi; P Tonin; Serenella Servidei; G Siciliano; A. Carlucci; C Scotti; M Comelli; A Toscano; C. Danesino

doi:10.1186/s13023-014-0102-z

Genotype-phenotype correlation in Pompe disease, a step forward

P De Filippi^*
, K Saeidi
, S Ravaglia
, A Dardis
, C Angelini
, T Mongini
, L Morandi
, M Moggio
, A Di Muzio
, M Filosto
, B Bembi
, F Giannini
, G Marrosu
, M Rigoldi
, P Tonin
, Serenella Servidei
, G Siciliano
, A. Carlucci
, C Scotti
, M Comelli

A Toscano, C. Danesino

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

43 Citazioni (Scopus)

Abstract

Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.

Lingua originale	Inglese
pagine (da-a)	102-N/A
Rivista	Orphanet Journal of Rare Diseases
Volume	9
Numero di pubblicazione	Agosto
DOI	https://doi.org/10.1186/s13023-014-0102-z
Stato di pubblicazione	Pubblicato - 2014

All Science Journal Classification (ASJC) codes

Genetica (clinica)
Farmacologia (medica)

Keywords

Genotype-phenotype
Pompe

Accesso al documento

10.1186/s13023-014-0102-z

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De Filippi, P., Saeidi, K., Ravaglia, S., Dardis, A., Angelini, C., Mongini, T., Morandi, L., Moggio, M., Di Muzio, A., Filosto, M., Bembi, B., Giannini, F., Marrosu, G., Rigoldi, M., Tonin, P., Servidei, S., Siciliano, G., Carlucci, A., Scotti, C., ... Danesino, C. (2014). Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet Journal of Rare Diseases, 9(Agosto), 102-N/A. https://doi.org/10.1186/s13023-014-0102-z

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title = "Genotype-phenotype correlation in Pompe disease, a step forward",

abstract = "Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.",

keywords = "Genotype-phenotype, Pompe, Genotype-phenotype, Pompe",

author = "\{De Filippi\}, P and K Saeidi and S Ravaglia and A Dardis and C Angelini and T Mongini and L Morandi and M Moggio and \{Di Muzio\}, A and M Filosto and B Bembi and F Giannini and G Marrosu and M Rigoldi and P Tonin and Serenella Servidei and G Siciliano and A. Carlucci and C Scotti and M Comelli and A Toscano and C. Danesino",

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doi = "10.1186/s13023-014-0102-z",

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De Filippi, P, Saeidi, K, Ravaglia, S, Dardis, A, Angelini, C, Mongini, T, Morandi, L, Moggio, M, Di Muzio, A, Filosto, M, Bembi, B, Giannini, F, Marrosu, G, Rigoldi, M, Tonin, P, Servidei, S, Siciliano, G, Carlucci, A, Scotti, C, Comelli, M, Toscano, A & Danesino, C 2014, 'Genotype-phenotype correlation in Pompe disease, a step forward', Orphanet Journal of Rare Diseases, vol. 9, n. Agosto, pagg. 102-N/A. https://doi.org/10.1186/s13023-014-0102-z

TY - JOUR

T1 - Genotype-phenotype correlation in Pompe disease, a step forward

AU - De Filippi, P

AU - Saeidi, K

AU - Ravaglia, S

AU - Dardis, A

AU - Angelini, C

AU - Mongini, T

AU - Morandi, L

AU - Moggio, M

AU - Di Muzio, A

AU - Filosto, M

AU - Bembi, B

AU - Giannini, F

AU - Marrosu, G

AU - Rigoldi, M

AU - Tonin, P

AU - Servidei, Serenella

AU - Siciliano, G

AU - Carlucci, A.

AU - Scotti, C

AU - Comelli, M

AU - Toscano, A

AU - Danesino, C.

PY - 2014

Y1 - 2014

N2 - Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.

AB - Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.

KW - Genotype-phenotype

KW - Pompe

KW - Genotype-phenotype

KW - Pompe

UR - https://publicatt.unicatt.it/handle/10807/62807

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U2 - 10.1186/s13023-014-0102-z

DO - 10.1186/s13023-014-0102-z

M3 - Article

SN - 1750-1172

VL - 9

SP - 102-N/A

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - Agosto

ER -

Genotype-phenotype correlation in Pompe disease, a step forward

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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