Latest Research in Hereditary Neurometabolic Disorders
119 research papers · 2026 median publication year
Top Research Topics in Hereditary Neurometabolic Disorders
- Hereditary Neurological Disorders — 7 papers
- Muscle Physiology and Disorders — 6 papers
- Lysosomal Storage Disorders Research — 5 papers
- Genomics and Rare Diseases — 4 papers
- Alkaline Phosphatase Research Studies — 4 papers
- Parathyroid Disorders and Treatments — 4 papers
- Metabolism and Genetic Disorders — 4 papers
- Glycogen Storage Diseases and Myoclonus — 4 papers
- Genetic Neurodegenerative Diseases — 3 papers
- Cardiomyopathy and Myosin Studies — 3 papers
Highest-Cited Papers
- Population-specific genetic variants and related health outcomes in a cohort of Inuit children in Nunavut
- Neuroradiologic Findings in Patients With S CN2A Disease
- Cramps as the initial presentation of CANVAS/RFC1-related disorder
- Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution
- Clinical and genotypic characterization of SETD5-related disorders using Human Phenotype Ontology-based profiling
- CIDP in Association With CMT : The Importance of Repeated History Taking and Clinical Examination in the Monitoring of Genetic Neuropathy
- Expert Delphi consensus on the diagnosis and management of Hypophosphatasia in the Gulf Cooperation Council region
- Adult X-linked hypophosphatemia: multisystem morbidity and no evidence of genotype–phenotype correlation – insights from a Brazilian cohort
- Involvement of Reduced ENPP1 Function in the Pathogenesis of Ossification of the Posterior Longitudinal Ligament
- The Multifaceted Role of the FLNC Gene in Hereditary Cardiomyopathies and Prognosis
- Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
- Novel genetic variants and atypical phenotypes in pediatric progressive familial intrahepatic cholestasis
- Nav1.5 Beyond Genetics: Loss of Cardiac Sodium-Channel Function in Brugada Syndrome
- The Future of Genetic Therapy for Inherited Cardiomyopathy
- The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum
- Sociodemographic and Clinical Profile of Adult Males With Duchenne Muscular Dystrophy
- Report on the 7th Ottawa International Conference on Neuromuscular Disease & Biology – September 11‐13, 2025, Ottawa, Canada
- Ketone metabolism defects in childhood: a spectrum of overlapping presentations and clinical features
- Burosumab as bridging therapy in autosomal dominant hypophosphatemic rickets with femoral fracture nonunion and iron deficiency
- Progressive dilated cardiomyopathy in a patient with previously unrecognized Klinefelter syndrome: a case report
Sub-Regions
- Parathyroid Disorders and Treatments — 41 papers
- Cardiomyopathy and Myosin Studies — 31 papers
- Hemoglobinopathies and Related Disorders — 25 papers
- Connective tissue disorders research — 15 papers
- Genomics and Rare Diseases — 12 papers
- Lysosomal Storage Disorders Research — 7 papers