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

68 Citations (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.

Original language	English
Journal	Molecular Genetics and Metabolism
Volume	110
Issue number	3
Pages (from-to)	287-9
Number of pages	3
ISSN	1096-7192
DOIs	https://doi.org/10.1016/j.ymgme.2013.08.005
Publication status	Published - Nov 2013

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10.1016/j.ymgme.2013.08.005

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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",

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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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