Associated Papers
Acute rhabdomyolysis as the presenting symptom in two females with a DMD mutation.
Mohamed K et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Left ventricular cardiomyopathy due to CPT II hereditary deficiency. Keys to an infrequent diagnosis.
Herrador L et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2026
Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.
Politei J et al.
Lipids, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Genetic evaluation of early-onset atrial fibrillation: impact on patient management.
Laws JL et al.
European Heart Journal, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.
Kruijt N et al.
Genes, 2025
Migratory and intermittent polyarthritis as an atypical presentation of carnitine palmitoyltransferase II deficiency with positive response to treatment with Interleukin-1 receptor antagonist: a case presentation and case-based review.
Psarelis S et al.
Rheumatology International, 2025
Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report.
Krug A et al.
Journal of Medical Case Reports, 2025
Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.
Akan G et al.
Orphanet Journal of Rare Diseases, 2025
The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.
Crisafulli O et al.
European Journal of Applied Physiology, 2025
Mechanistic insights into impaired β-oxidation and its role in mitochondrial dysfunction: A comprehensive review.
Aqeel A et al.
Diabetes Research and Clinical Practice, 2025
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.
Schott C et al.
Genes, 2025
The Therapeutic Impact of Genetic Evaluation in an Atrial Fibrillation Precision Medicine Clinic.
Laws JL et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders.
Verberk SGS et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM et al.
European Journal of Human Genetics : Ejhg, 2025
A rare cause of acute kidney injury due to recurrent rhabdomyolysis: Carnitine palmitoyltransferase 2 deficiency.
Ozkan Kurtgoz P et al.
Hemodialysis International. International Symposium on Home Hemodialysis, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
Lu CH et al.
Molecular Genetics and Metabolism Reports, 2024
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis.
Tran TCM et al.
Molecular Genetics and Metabolism Reports, 2024
Carnitine Palmitoyltransferase II (CPT2) Deficiency: An Overlooked and Elusive Cause of Acute Kidney Injury.
Seferi S et al.
Cureus, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report.
Alabbasi L et al.
Cureus, 2024
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Serra G et al.
Italian Journal of Pediatrics, 2024
Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.
Akar HT et al.
Cen Case Reports, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
Gonçalves MM et al.
International Journal of Neonatal Screening, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Low Complex I and III Activity-Derived Myopathy Causing Recurrent Exertional Rhabdomyolysis.
Hu YE
Current Sports Medicine Reports, 2024
Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
Lorenzoni PJ et al.
Arquivos De Neuro-psiquiatria, 2024
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
Yazıcı H et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.
Kheirandish A et al.
Gastroenterology and Hepatology From Bed to Bench, 2024
Idiopathic interstitial pneumonia in a patient with von Hippel-Lindau syndrome: a first case.
Morlacchi LC et al.
Erj Open Research, 2023
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Tajima G et al.
International Journal of Neonatal Screening, 2023
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F et al.
Genes, 2023
Does SARS-Cov-2 Trigger Rhabdomyolysis in Carnitine-Palmitoyltransferase-II Deficiency?
Finsterer J
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2023
Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.
Yao M et al.
World Journal of Gastroenterology, 2023
From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency.
Marques C et al.
Archive of Clinical Cases, 2023