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First published 2010-8

Diagnosis,Treatment,and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency

Laura M. Pollard, Nolan R. Williams, Lesby Espinoza [...]

Journal of Child Neurology

Retricted access

Brief report

First published 2025-10

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series

Cristina Viguera Altolaguirre, Andrew B Stergachis, David A Sweetser [...]

The Neurohospitalist

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Case report

First published 2022-9

An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system

Matthew Eskell, Hashim Khan

Journal of the Royal College of Physicians of Edinburgh

Open access

Review article

First published 2021

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’

A. Manta, S. Spendiff, H. Lochmüller [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2013-9

Therapeutic advances in the management of Pompe disease and other metabolic myopathies

Corrado Angelini, Anna Chiara Nascimbeni, Claudio Semplicini

Therapeutic Advances in Neurological Disorders

Open access

Review article

First published 2019

Metabolic lipid muscle disorders: biomarkers and treatment

Corrado Angelini, Elena Pennisi, Sara Missaglia [...]

Therapeutic Advances in Neurological Disorders

Open access

Case report

First published 2025

The Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal Patients

Reva Frankel, Courtney Verscaj, Christina G. Tise [...]

Journal of Investigative Medicine High Impact Case Reports

Open access

Case report

First published 2020-11

A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene

Yue Wu, Jingzhe Han, Yaye Wang [...]

Journal of International Medical Research

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