Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family-Reference-Cited by-同舟云学术

Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Published:2015-05 Issue:5 Volume:25 Page:423-428
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Colombo I.,Pagliarani S.,Testolin S.,Salsano E.,Napoli L.M.,Bordoni A.,Salani S.,D'Adda E.,Morandi L.,Farina L.,Magri F.,Riva M.,Prelle A.,Sciacco M.,Comi G.P.,Moggio M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference16 articles.

1. Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings;Mochel;Ann Neurol,2012

2. Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder;Li;J Inherit Metab Dis,2010

3. Branching enzyme deficiency: expanding the clinical spectrum;Paradas;JAMA Neurol,2014

4. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene;Massa;Muscle Nerve,2008

5. Glycogen branching enzyme deficiency in adult polyglucosan body disease;Bruno;Ann Neurol,1993

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