Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

Nicolai Preisler; Zoltan Lukacs; Lotte Vinge; Karen Lindhardt Madsen; Edith Husu; Regitze Sølling Hansen; Morten Duno; Henning Andersen; Michael Søren Haae Laub; John Vissing

doi:10.1016/j.ymgme.2013.08.005

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

Nicolai Preisler
, Zoltan Lukacs
, Lotte Vinge
, Karen Lindhardt Madsen
, Edith Husu
, Regitze Sølling Hansen
, Morten Duno
, Henning Andersen
, Michael Søren Haae Laub
, John Vissing

72 Citationer (Scopus)

Abstract

Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease.

Originalsprog	Engelsk
Tidsskrift	Molecular Genetics and Metabolism
Vol/bind	110
Udgave nummer	3
Sider (fra-til)	287-9
Antal sider	3
ISSN	1096-7192
DOI	https://doi.org/10.1016/j.ymgme.2013.08.005
Status	Udgivet - nov. 2013

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10.1016/j.ymgme.2013.08.005

Citationsformater

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title = "Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies",

abstract = "Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease.",

author = "Nicolai Preisler and Zoltan Lukacs and Lotte Vinge and Madsen, \{Karen Lindhardt\} and Edith Husu and Hansen, \{Regitze S{\o}lling\} and Morten Duno and Henning Andersen and Laub, \{Michael S{\o}ren Haae\} and John Vissing",

year = "2013",

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language = "English",

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TY - JOUR

T1 - Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

AU - Preisler, Nicolai

AU - Lukacs, Zoltan

AU - Vinge, Lotte

AU - Madsen, Karen Lindhardt

AU - Husu, Edith

AU - Hansen, Regitze Sølling

AU - Duno, Morten

AU - Andersen, Henning

AU - Laub, Michael Søren Haae

AU - Vissing, John

PY - 2013/11

Y1 - 2013/11

N2 - Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease.

AB - Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease.

U2 - 10.1016/j.ymgme.2013.08.005

DO - 10.1016/j.ymgme.2013.08.005

M3 - Journal article

C2 - 24011652

SN - 1096-7192

VL - 110

SP - 287

EP - 289

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

Abstract

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