Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II-Reference-Cited by-同舟云学术

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II

Published:2014-01-31 Issue:3 Volume:49 Page:446-450
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Rosenbohm Angela¹,Süssmuth Sigurd D.¹,Kassubek Jan¹,Müller Hans-Peter¹,Pontes Christina²,Abicht Angela³,Bulst Stefanie³,Ludolph Albert C.¹,Pinkhardt Elmar¹

Affiliation:

1. Department of Neurology; University of Ulm; Oberer Eselsberg 45 89081 Ulm Germany

2. Department of Pediatrics; University of Heidelberg; Germany

3. Institute of Human Genetics; Medizinisch Genetisches Zentrum MGZ Munich; Germany

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.23979/fullpdf

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3. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

4. MR imaging findings of glutaric aciduria type II;Mumtaz;Singapore Med J,2010

5. Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol;Norden;BMC Neurol,2011

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5. Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin;International Journal of Neuroscience;2020-03-09