Associated Papers
Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience
Papatya Çakır ED et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM et al.
American Journal of Medical Genetics. Part A, 2025
SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease.
Freitas LF et al.
Arquivos De Neuro-psiquiatria, 2023
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 2023
36544340 (PubMed )
Supplement: alm-43-3-280-supple.xlsx › Table_S2
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Kobayashi M et al.
Human Genome Variation, 2022
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS et al.
Clinical Genetics, 2020
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