LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Serenella Servidei; O. Musumeci; G. La Marca; M. Spada; S. Mondello; C. Danesino; G. P. Comi; E. Pegoraro; G. Antonini; G. Marrosu; R. Liguori; L. Morandi; M. Moggio; R. Massa; S. Ravaglia; A Di Muzio; M. Filosto; P. Tonin; G Di Iorio; G. Siciliano; C. Angelini; T. Mongini; A. Toscano; F. Montagnese; E. Barca; D. Ombrone; S. Pagliardini; L. Vercelli; P. De Filippi; D. Ronchi; V. Lucchini; C. Semplicini; M. Garibaldi; R. Piras; L. Maggi; C. Terracciano; M. Scarpelli; F. Ciccocioppo; null Chieti; G. Primiano; G. Ricci

doi:10.1136/jnnp-2014-310164

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Serenella Servidei, O. Musumeci, G. La Marca, M. Spada, S. Mondello, C. Danesino, G. P. Comi, E. Pegoraro, G. Antonini, G. Marrosu, R. Liguori, L. Morandi, M. Moggio, R. Massa, S. Ravaglia, A Di Muzio, M. Filosto, P. Tonin, G Di Iorio, G. SicilianoC. Angelini, T. Mongini, A. Toscano, F. Montagnese, E. Barca, D. Ombrone, S. Pagliardini, L. Vercelli, P. De Filippi, D. Ronchi, V. Lucchini, C. Semplicini, M. Garibaldi, R. Piras, L. Maggi, C. Terracciano, M. Scarpelli, F. Ciccocioppo, Chieti, G. Primiano, G. Ricci

Risultato della ricerca: Contributo in rivista › Articolo in rivista

34 Citazioni (Scopus)

Abstract

A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool.

Lingua originale	English
pagine (da-a)	5-11
Numero di pagine	7
Rivista	JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY
Volume	87
DOI	https://doi.org/10.1136/jnnp-2014-310164
Stato di pubblicazione	Pubblicato - 2016

Keywords

METABOLIC DISEASE
MUSCLE DISEASE

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10.1136/jnnp-2014-310164

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Servidei, S., Musumeci, O., Marca, G. L., Spada, M., Mondello, S., Danesino, C., Comi, G. P., Pegoraro, E., Antonini, G., Marrosu, G., Liguori, R., Morandi, L., Moggio, M., Massa, R., Ravaglia, S., Muzio, A. D., Filosto, M., Tonin, P., Iorio, G. D., ... Ricci, G. (2016). LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY, 87, 5-11. https://doi.org/10.1136/jnnp-2014-310164

Servidei, Serenella ; Musumeci, O. ; Marca, G. La ; Spada, M. ; Mondello, S. ; Danesino, C. ; Comi, G. P. ; Pegoraro, E. ; Antonini, G. ; Marrosu, G. ; Liguori, R. ; Morandi, L. ; Moggio, M. ; Massa, R. ; Ravaglia, S. ; Muzio, A Di ; Filosto, M. ; Tonin, P. ; Iorio, G Di ; Siciliano, G. ; Angelini, C. ; Mongini, T. ; Toscano, A. ; Montagnese, F. ; Barca, E. ; Ombrone, D. ; Pagliardini, S. ; Vercelli, L. ; De Filippi, P. ; Ronchi, D. ; Lucchini, V. ; Semplicini, C. ; Garibaldi, M. ; Piras, R. ; Maggi, L. ; Terracciano, C. ; Scarpelli, M. ; Ciccocioppo, F. ; Chieti ; Primiano, G. ; Ricci, G. / LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2016 ; Vol. 87. pagg. 5-11.

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title = "LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population",

abstract = "A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool.",

keywords = "METABOLIC DISEASE, MUSCLE DISEASE, METABOLIC DISEASE, MUSCLE DISEASE",

author = "Serenella Servidei and O. Musumeci and Marca, {G. La} and M. Spada and S. Mondello and C. Danesino and Comi, {G. P.} and E. Pegoraro and G. Antonini and G. Marrosu and R. Liguori and L. Morandi and M. Moggio and R. Massa and S. Ravaglia and Muzio, {A Di} and M. Filosto and P. Tonin and Iorio, {G Di} and G. Siciliano and C. Angelini and T. Mongini and A. Toscano and F. Montagnese and E. Barca and D. Ombrone and S. Pagliardini and L. Vercelli and {De Filippi}, P. and D. Ronchi and V. Lucchini and C. Semplicini and M. Garibaldi and R. Piras and L. Maggi and C. Terracciano and M. Scarpelli and F. Ciccocioppo and Chieti and G. Primiano and G. Ricci",

year = "2016",

doi = "10.1136/jnnp-2014-310164",

language = "English",

volume = "87",

pages = "5--11",

journal = "JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY",

issn = "0022-3050",

publisher = "BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402",

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Servidei, S, Musumeci, O, Marca, GL, Spada, M, Mondello, S, Danesino, C, Comi, GP, Pegoraro, E, Antonini, G, Marrosu, G, Liguori, R, Morandi, L, Moggio, M, Massa, R, Ravaglia, S, Muzio, AD, Filosto, M, Tonin, P, Iorio, GD, Siciliano, G, Angelini, C, Mongini, T, Toscano, A, Montagnese, F, Barca, E, Ombrone, D, Pagliardini, S, Vercelli, L, De Filippi, P, Ronchi, D, Lucchini, V, Semplicini, C, Garibaldi, M, Piras, R, Maggi, L, Terracciano, C, Scarpelli, M, Ciccocioppo, F, Chieti, Primiano, G & Ricci, G 2016, 'LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population', JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY, vol. 87, pagg. 5-11. https://doi.org/10.1136/jnnp-2014-310164

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. / Servidei, Serenella; Musumeci, O.; Marca, G. La; Spada, M.; Mondello, S.; Danesino, C.; Comi, G. P.; Pegoraro, E.; Antonini, G.; Marrosu, G.; Liguori, R.; Morandi, L.; Moggio, M.; Massa, R.; Ravaglia, S.; Muzio, A Di; Filosto, M.; Tonin, P.; Iorio, G Di; Siciliano, G.; Angelini, C.; Mongini, T.; Toscano, A.; Montagnese, F.; Barca, E.; Ombrone, D.; Pagliardini, S.; Vercelli, L.; De Filippi, P.; Ronchi, D.; Lucchini, V.; Semplicini, C.; Garibaldi, M.; Piras, R.; Maggi, L.; Terracciano, C.; Scarpelli, M.; Ciccocioppo, F.; Chieti; Primiano, G.; Ricci, G.

In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY, Vol. 87, 2016, pag. 5-11.

Risultato della ricerca: Contributo in rivista › Articolo in rivista

TY - JOUR

T1 - LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

AU - Servidei, Serenella

AU - Musumeci, O.

AU - Marca, G. La

AU - Spada, M.

AU - Mondello, S.

AU - Danesino, C.

AU - Comi, G. P.

AU - Pegoraro, E.

AU - Antonini, G.

AU - Marrosu, G.

AU - Liguori, R.

AU - Morandi, L.

AU - Moggio, M.

AU - Massa, R.

AU - Ravaglia, S.

AU - Muzio, A Di

AU - Filosto, M.

AU - Tonin, P.

AU - Iorio, G Di

AU - Siciliano, G.

AU - Angelini, C.

AU - Mongini, T.

AU - Toscano, A.

AU - Montagnese, F.

AU - Barca, E.

AU - Ombrone, D.

AU - Pagliardini, S.

AU - Vercelli, L.

AU - De Filippi, P.

AU - Ronchi, D.

AU - Lucchini, V.

AU - Semplicini, C.

AU - Garibaldi, M.

AU - Piras, R.

AU - Maggi, L.

AU - Terracciano, C.

AU - Scarpelli, M.

AU - Ciccocioppo, F.

AU - Chieti, null

AU - Primiano, G.

AU - Ricci, G.

PY - 2016

Y1 - 2016

N2 - A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool.

AB - A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool.

KW - METABOLIC DISEASE

KW - MUSCLE DISEASE

KW - METABOLIC DISEASE

KW - MUSCLE DISEASE

UR - http://hdl.handle.net/10807/71955

U2 - 10.1136/jnnp-2014-310164

DO - 10.1136/jnnp-2014-310164

M3 - Article

VL - 87

SP - 5

EP - 11

JO - JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY

JF - JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY

SN - 0022-3050

ER -

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Abstract

Keywords

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