Results 1 to 10 of about 1,023,457 (221)

Impaired lipolysis in propionic acidemia: A new metabolic myopathy? [PDF]

JIMD Reports, 2020
The objective of this study was to investigate the fat and carbohydrate metabolism in a patient with propionic acidemia (PA) during exercise by means of indirect calorimetry and stable isotope technique.
Jesper H. Storgaard, Karen L. Madsen, Nicoline Løkken, John Vissing, Gerrit vanHall, Allan M. Lund, Mette C. Ørngreen   +6 more
doaj   +2 more sources

Endocrine myopathy: Case-based review

Journal of Dr. NTR University of Health Sciences, 2016
Endocrine myopathy means muscle weakness in the presence of an abnormal endocrine state. Most of the endocrine disorders are associated with myopathy and it is usually reversible with correction of the underlying disturbance, though, there is an ...
Babul Reddy Hanmayyagari, Mounika Guntaka, Voleti Sri Nagesh, Sridevi Paladugu, Srinivas Kasha   +4 more
doaj   +2 more sources

Paraneoplastic Myopathy as a Possible Initial Presentation of Sporadic Burkitt Lymphoma in an Immunocompetent Adult: A Case Report [PDF]

Cancer Reports
Background Burkitt's lymphoma (BL) is a highly aggressive B‐cell non‐Hodgkin lymphoma with rapid proliferation and early systemic dissemination. Neuromuscular manifestations are rare and are typically secondary to direct infiltration or metabolic ...
Abolfazl Khalafi‐Nezhad, Dena Firouzabadi, Vahid mohammadkarimi, Amirreza Dehghanian   +3 more
doaj   +2 more sources

Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

JIMD Reports, 2021
Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion.
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing   +10 more
doaj   +1 more source

METABOLIC VS INFLAMMATORY MYOPATHY: DIAGNOSTIC DIFFICULTIES AND ERRORS IN MYOPATHIES – CASE REPORT [PDF]

Romanian Journal of Rheumatology, 2019
Glycogen storage diseases are genetic metabolic disorders of glycogen metabolism. There are more than 12 types and they are grouped based on the enzyme deficiency and the affected tissue.
Andra-Patricia Stanciu, Sinziana Daia-Iliescu, Mircea Diculescu, Ruxandra Ionescu   +3 more
doaj   +1 more source

Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study

Frontiers in Medicine, 2022
BackgroundMyoadenylate deaminase (MAD) deficiency is a form of metabolic myopathy, which generally causes only mild symptoms in the primary inherited form.
Michael Wilkinson, Michael Wilkinson, Michael Wilkinson, Kathy Cash, Bernice Gutschmidt, Sophia Otto, Sophia Otto, Vidya Limaye, Vidya Limaye   +8 more
doaj   +1 more source

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

Frontiers in Neurology, 2022
Pompe disease is an autosomal recessive hereditary lysosomal disorder and correlated with acid α-glucosidase enzyme (GAA) deficiencies, which lead to accumulation of glycogen in all tissues, most notably in skeletal muscles.
Huiting Zhang, Jun Chen, Yuchang Zhu, Xiaotang Ma, Wangtao Zhong   +4 more
doaj   +1 more source

Hepatic Oxidative Stress, Apoptosis, and Inflammation in Broiler Chickens With Wooden Breast Myopathy

Frontiers in Physiology, 2021
Wooden breast (WB) syndrome has emerged as a global myopathy in modern commercial broiler chickens, mainly affecting the pectoralis major muscle. Recent evidence suggests that WB myopathy is a systemic disease, which might be accompanied by other ...
Tong Xing, Xiaona Pan, Lin Zhang, Feng Gao   +3 more
doaj   +1 more source

Absence of p.R50X Pygm read-through in McArdle disease cellular models

Disease Models & Mechanisms, 2020
McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown.
Guillermo Tarrasó, Alberto Real-Martinez, Marta Parés, Lídia Romero-Cortadellas, Laura Puigros, Laura Moya, Noemí de Luna, Astrid Brull, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, Antoni L. Andreu, Jordi Barquinero, John Vissing, Thomas O. Krag, Tomàs Pinós   +15 more
doaj   +1 more source

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

Endocrinology, Diabetes & Metabolism, 2023
Introduction Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of β‐oxidation. Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death ...
Emily Mason, Charles C. T. Hindmarch, Kimberly J. Dunham‐Snary   +2 more
doaj   +1 more source