Latest Research in Metabolism and Genetic Disorders
20 research papers · 2026 median publication year
Top Research Topics in Metabolism and Genetic Disorders
- Metabolism and Genetic Disorders — 3 papers
- Folate and B Vitamins Research — 2 papers
- Hereditary Neurological Disorders — 1 papers
- Genetic Neurodegenerative Diseases — 1 papers
- Lysosomal Storage Disorders Research — 1 papers
- Biotin and Related Studies — 1 papers
- Neurogenetic and Muscular Disorders Research — 1 papers
- Muscle Physiology and Disorders — 1 papers
- Connective tissue disorders research — 1 papers
- Genetic Associations and Epidemiology — 1 papers
Highest-Cited Papers
- CIDP in Association With CMT : The Importance of Repeated History Taking and Clinical Examination in the Monitoring of Genetic Neuropathy
- Ketone metabolism defects in childhood: a spectrum of overlapping presentations and clinical features
- Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report
- Propionic Acidemia: An Ambispective Cohort Study on Phenotypic and Genotypic Characteristics at a Tertiary Center in Vietnam
- Disease Progression Curves of Muscular Strength, Motor and Respiratory Muscle Function in Congenital, Childhood, and Adult Forms of Myotonic Dystrophy Type 1
- The Effect of Anti-drug Antibodies on the Bioavailability of Alglucosidase Alfa in Classic Infantile Pompe Disease
- Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report
- Intensive Family-Centered Rehabilitation and Motor Outcomes in a Child with Global Developmental Delay: A Case Report
- A Registry-Based Perspective of Interventional Clinical Trials for Duchenne Muscular Dystrophy
- Neurodevelopmental and neurological features in children with hypochondroplasia
- Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score
- Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result
- Novel TBX20 Variations Susceptible to Sporadic Atrial Fibrillation
- When the Electromyography (EMG) and the Patient Disagree: Unraveling a Motor Neuron Disease Mimic With Small-Fiber Dysfunction
- Care Models for the Genetic Evaluation of Dilated Cardiomyopathy at Sites of the DCM Consortium
- Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
- Histological manifestations of vitamin A toxicity in the liver
- Cobalamin‐Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment‐New Cases and a Literature Study
- Medical genetics in Indonesia: development, challenges, and future priorities in a diverse middle-income archipelago