Results 161 to 170 of about 71,327 (316)

An Extremely Rare Cause of Rhabdomyolysis: Emery Dreifuss Syndrome

Bagcilar Medical Bulletin
Intense physical activity, medications and trauma are common causes of rhabdomyolysis. However, etiologic factor of rhabdomyolysis can not be determined in a remarkable proportion of the cases.
Hazal Levent, Yunus Çoruk, Elif Itır Şen, Yasemin Çepni, Ayça Çınar, Ahmet Murat, Numan Görgülü   +6 more
doaj   +1 more source

Atypical Presentation of Crimean–Congo Hemorrhagic Fever as Ascending Paralysis with Rhabdomyolysis

, 2020
Varuna Vyas, R. Hari Prasad
openalex   +1 more source

Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Long‐chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child‐bearing age.
Sarah C. Grünert, Mirjam Langeveld, Lisa Rudolph, Ute Spiekerkoetter, Allan M. Lund, Annalisa Sechi, Halil Tuna Akar, Karolina M. Stepien, Hanım Aghakishili, Amelie S. Lotz‐Havla, Klaus G. Parhofer, Saadet Mercimek‐Andrews, Havva Yazıcı, Sema Kalkan Uçar, Thomas Scherer, Margreet Wagenmakers, Nur Arslan, Irene Chang, Allie LaTray, Vladimir Bzduch, Ivo Barić, Corina Weigel, Sonja. L. van Ockenburg, Alexander Rennings, Terry G. J. Derks, Alessandro Rossi, David Cassiman, Elaine Murphy   +27 more
wiley   +1 more source

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Thymidine kinase 2 deficiency (TK2d) is an ultra‐rare autosomal recessive mitochondrial myopathy with variable presentations, including late‐onset forms beginning after age 12. Unlike early‐onset disease, the natural history of late‐onset TK2d remains poorly defined.
Paloma Martín‐Jimenez, Laura Bermejo‐Guerrero, Luz Edith Ochoa, María Navarro‐Riquelme, Rocío Garrido‐Moraga, Aurelio Hernández‐Laín, Ana Hernández‐Voth, Adrián González Quintana, Ana Bermejo‐Moriñigo, Violeta González‐Méndez, Cristina Martín‐Arriscado Arroba, Dimitrii Smirnov, Nikita Konstantinovskiy, Joaquín Arenas, Miguel Ángel Martin, Alberto Blázquez, Cristina Domínguez‐González   +16 more
wiley   +1 more source

Psychosis-Induced Exertional Rhabdomyolysis without Acute Kidney Injury or Myoglobinuria

, 2021
Joann M. Butkus, Mackenzie Kramer, Vincent Chan, Eunha Kim   +3 more
openalex   +1 more source

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source

Rhabdomyolysis

BMJ, 2003
Russell, Lane, Malcolm, Phillips
openaire   +3 more sources

A novel mutation in N-terminal actin-binding domain of DMD presenting recurrent exertional rhabdomyolysis: a case report [PDF]

, 2018
Jong‐Mok Lee
openalex   +1 more source

Explosive Weapons Trauma Care Collective (EXTRACCT) Clinical Practice Guideline: Resuscitation of Pediatric Blast Injury Patient

World Journal of Surgery, Volume 50, Issue 1, Page 162-176, January 2026.
Children living in conflict or post‐conflict zones are frequently exposed to explosive injuries, with thousands killed and injured every year. The clinical practice guideline from the Explosive Weapons Trauma Care Collective (EXTRACCT) group provides a review of current best practice for the resuscitation of a child who has sustained a blast injury in ...
Gavin Wooldridge, Francis Abantanga, Emmanuel Ameh, Vinay N. Kampalath, Paul Reavley, Philip C. Spinella, On behalf of the EXTRACCT Clinical Practice Guidelines Collaboration   +6 more
wiley   +1 more source

Polysaccharide storage myopathy - the story so far [PDF]

, 2015
Annandale, Annandale, Arad, Baird, Borgia, Borgia, Byrne, De La Corte, De La Corte, De La Corte, DiMauro, Firshman, Firshman, Firshman, Herszberg, Hunt, Johlig, Lacombe, Larcher, Ledwith, Lentz, McCoy, McCue, McCue, McCue, McCue, McCue, McCue, Naylor, Naylor, Quiroz-Rothe, Ribeiro, Schwarz, Sierra, Soliman, Stanley, Stanley, Valberg, Valberg, Valberg, Valberg, Valberg, Valentine, Valentine, Valentine, Valentine   +45 more
core   +2 more sources