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

O Musumeci; G La Marca; M Spada; S Mondello; C Danesino; Gp 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; Serenella Servidei; G Siciliano; C Angelini; T Mongini; A. Toscano

doi:10.1136/jnnp-2014-310164

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

O Musumeci
, G La Marca
, M Spada
, S Mondello
, C Danesino
, Gp 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
, Serenella Servidei
, G Siciliano

C Angelini, T Mongini, A. Toscano^*

^*Autore corrispondente per questo lavoro

University of Messina

Risultato della ricerca: Contributo in rivista › Articolo

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	Inglese
pagine (da-a)	5-11
Numero di pagine	7
Rivista	Journal of Neurology, Neurosurgery and Psychiatry
Volume	87
Numero di pubblicazione	1
DOI	https://doi.org/10.1136/jnnp-2014-310164
Stato di pubblicazione	Pubblicato - 2016

All Science Journal Classification (ASJC) codes

Chirurgia
Neurologia (clinica)
Psichiatria e Salute Mentale

Keywords

METABOLIC DISEASE
MUSCLE DISEASE

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10.1136/jnnp-2014-310164

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Musumeci, O., La Marca, G., Spada, M., Mondello, S., Danesino, C., Comi, G., Pegoraro, E., Antonini, G., Marrosu, G., Liguori, R., Morandi, L., Moggio, M., Massa, R., Ravaglia, S., Di Muzio, A., Filosto, M., Tonin, P., Di Iorio, G., Servidei, S., ... Toscano, A. (2016). LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. Journal of Neurology, Neurosurgery and Psychiatry, 87(1), 5-11. https://doi.org/10.1136/jnnp-2014-310164

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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.",

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Musumeci, O, La Marca, G, Spada, M, Mondello, S, Danesino, C, Comi, G, Pegoraro, E, Antonini, G, Marrosu, G, Liguori, R, Morandi, L, Moggio, M, Massa, R, Ravaglia, S, Di Muzio, A, Filosto, M, Tonin, P, Di Iorio, G, Servidei, S, Siciliano, G, Angelini, C, Mongini, T & Toscano, A 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, n. 1, pagg. 5-11. https://doi.org/10.1136/jnnp-2014-310164

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

AU - Musumeci, O

AU - La Marca, G

AU - Spada, M

AU - Mondello, S

AU - Danesino, C

AU - Comi, Gp

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 - Di Muzio, A

AU - Filosto, M

AU - Tonin, P

AU - Di Iorio, G

AU - Servidei, Serenella

AU - Siciliano, G

AU - Angelini, C

AU - Mongini, T

AU - Toscano, A.

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

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DO - 10.1136/jnnp-2014-310164

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SN - 0022-3050

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SP - 5

EP - 11

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

IS - 1

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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