Results 231 to 240 of about 182,656 (351)

Successful heart transplantation in a patient with glycogen storage disease. [PDF]

Oxf Med Case Reports
Yousefi-Koma H, Sharif-Kashani B, Ahmadi ZH, Sadeghi MT, Jahangirifard A, Saliminejad L, Shafaghi S, Naghashzadeh F.   +7 more
europepmc   +1 more source

Idiopathic inflammatory myopathies

, 2012
Dominique Figarella‐Branger, C. Lacroix, M Coquet, RK Gherardi, J F Pellissier   +4 more
openalex   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Dermatomyositis Mimicking Statin-Induced Myopathy in A 62-Year-Old Woman. [PDF]

Eur J Case Rep Intern Med
Pastrana-Echevarria I, Rivera-Serrano M, Cancel-Artau K, Bury-Fiol S.   +3 more
europepmc   +1 more source

Hyperthyroidism with periodic paralysis, acropachy, pre-tibial myxoedema, transient atrial fibrillation and myopathy [PDF]

, 1982
Ru Ming Guan, J. S. Cheah
openalex   +1 more source

LCN2‐ACOD1 Signalling Affects the Post‐Injury Regeneration of Skeletal Muscle Through Mediating Ferroptosis

Cell Proliferation, EarlyView.
LCN2 mediates the suppression of C2C12 myoblast proliferation and myotube formation via erastin‐induced ferroptosis. Mechanistically, the LCN2‐ACOD1 axis regulates skeletal muscle growth via mitochondria‐associated ferroptosis, providing a theoretical basis for the prevention and therapy of muscle‐related diseases.
Xiaojing Hao, Hongwei Shi, Di Wu, Rui Liang, Tong Zhao, Wen Sun, Yue Wang, Xiuju Yu, Xiaomao Luo, Yi Yan, Jiayin Lu, Haidong Wang, Juan Wang   +12 more
wiley   +1 more source

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy. [PDF]

Ann Indian Acad Neurol
Kiyan E, Pihtili A, Durmus H, Parman Y.
europepmc   +1 more source

Economic burden of type 2 diabetes management in France according to clinical characteristics

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aim We sought to investigate the treatment, medication patterns, and economic burden of type 2 diabetes (T2D) in France. Materials and Methods This was a descriptive retrospective cross‐sectional study of a representative sample of adults in the national healthcare system claims database in 2022.
Bruno Guerci, Christèle Blanc‐Bisson, Eric Vicaut, Gérard De Pouvourville, Bruno Detournay, Corinne Emery, Isabelle Bureau, Taos Ihaddadene‐Salzgeber, Fleur Levrat‐Guillen, Jean‐Pierre Riveline   +9 more
wiley   +1 more source

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis. [PDF]

Int J Womens Health
Chen S, Liang B, Lin N, Pan M, Li L.
europepmc   +1 more source

Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation–contraction coupling disorders

Enrico Bertini
openalex   +2 more sources