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McArdle Disease: A Diagnostic Challenge Due to Nonspecific Clinical Manifestations.
Cureus
December 2024
Internal Medicine, Hospital Conde de Bertiandos, Unidade Local de Saúde do Alto Minho, Ponte de Lima, PRT.
McArdle disease is a rare myopathy caused by hereditary myophosphorylase deficiency. It presents nonspecific symptoms, such as intolerance to physical exercise, early fatigue, and myalgias, and represents a paradigmatic example of one of the main challenges in clinical practice: the recognition of nonspecific and common symptoms as clinically relevant manifestations of rare diseases. The nonspecificity of symptoms leads to a frequent delay from the onset of first clinical signs to diagnosis.
View Article and Find Full Text PDFNovel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFLong-term persistence of glycemic dysregulation in patients with a history of pheochromocytoma/paraganglioma.
J Clin Endocrinol Metab
January 2025
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ), and University of Zurich (UZH), CH-8091 Zurich, Switzerland.
Context: Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors that frequently produce catecholamines. Catecholamine-induced cardiometabolic complications substantially contribute to increased morbidity and mortality in PPGL patients prior to surgical resection.
Objective: To determine whether markers of elevated cardiometabolic risk persist in patients following PPGL resection.
The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.
J Diabetes Metab Disord
June 2025
Division of Pediatrics, Santa Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Largo Medaglie d'oro, 9, 38122 Trento, Italy.
Background: Untreated patients affected by hereditary fructose intolerance (HFI) present an abnormal transferrin (Tf) glycosylation pattern suggestive of N-hypoglycosylation. Analysis of defects in N-glycosylation is possible by analysis of serum sialotransferrin (sialoTf) pattern. The sialoTf profile is a valuable tool to facilitate the diagnosis of HFI.
View Article and Find Full Text PDFAldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.
J Inherit Metab Dis
January 2025
Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center+, Maastricht, The Netherlands.
Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N-linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e.
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