Genotype-phenotype correlation in Pompe disease, a step forward

Paola De Filippi; Kolsoum Saeidi; Sabrina Ravaglia; Andrea Dardis; Corrado Angelini; Tiziana Mongini; Lucia Morandi; Maurizio Moggio; Antonio Di Muzio; Massimiliano Filosto; Bruno Bembi; Fabio Giannini; Giovanni Marrosu; Miriam Rigoldi; Paola Tonin; Serenella Servidei; Gabriele Siciliano; Annalisa Carlucci; Claudia Scotti; Mario Comelli; Antonio Toscano; Cesare Danesino

doi:10.1186/s13023-014-0102-z

Genotype-phenotype correlation in Pompe disease, a step forward

Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, Andrea Dardis, Corrado Angelini, Tiziana Mongini, Lucia Morandi, Maurizio Moggio, Antonio Di Muzio, Massimiliano Filosto, Bruno Bembi, Fabio Giannini, Giovanni Marrosu, Miriam Rigoldi, Paola Tonin, Serenella Servidei, Gabriele Siciliano, Annalisa Carlucci, Claudia Scotti, Mario ComelliAntonio Toscano, Cesare Danesino

Risultato della ricerca: Contributo in rivista › Articolo in rivista

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

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, 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}, Paola and Kolsoum Saeidi and Sabrina Ravaglia and Andrea Dardis and Corrado Angelini and Tiziana Mongini and Lucia Morandi and Maurizio Moggio and {Di Muzio}, Antonio and Massimiliano Filosto and Bruno Bembi and Fabio Giannini and Giovanni Marrosu and Miriam Rigoldi and Paola Tonin and Serenella Servidei and Gabriele Siciliano and Annalisa Carlucci and Claudia Scotti and Mario Comelli and Antonio Toscano and Cesare Danesino",

year = "2014",

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

language = "English",

volume = "9",

pages = "102--N/A",

journal = "Orphanet Journal of Rare Diseases",

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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, 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, Paola

AU - Saeidi, Kolsoum

AU - Ravaglia, Sabrina

AU - Dardis, Andrea

AU - Angelini, Corrado

AU - Mongini, Tiziana

AU - Morandi, Lucia

AU - Moggio, Maurizio

AU - Di Muzio, Antonio

AU - Filosto, Massimiliano

AU - Bembi, Bruno

AU - Giannini, Fabio

AU - Marrosu, Giovanni

AU - Rigoldi, Miriam

AU - Tonin, Paola

AU - Servidei, Serenella

AU - Siciliano, Gabriele

AU - Carlucci, Annalisa

AU - Scotti, Claudia

AU - Comelli, Mario

AU - Toscano, Antonio

AU - Danesino, Cesare

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 - http://hdl.handle.net/10807/62807

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

ER -

Genotype-phenotype correlation in Pompe disease, a step forward

Abstract

Keywords

Accesso al documento

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