1. Respiratory Distress in a Late Preterm: Is it Sepsis or Inborn Error of Metabolism?
    Menahil Asdaque et al, 2024, NeoReviews CrossRef
  2. Prevention of multiple system atrophy using human bone marrow-derived mesenchymal stem cells by reducing polyamine and cholesterol-induced neural damages
    Kyung-Ran Park et al, 2020, Stem Cell Research & Therapy CrossRef
  3. Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients
    Haseena Sait et al, 2024, Journal of Pediatric Genetics CrossRef
  4. Heterozygous carriers of succinyl‐CoA:3‐oxoacid CoA transferase deficiency can develop severe ketoacidosis
    Hideo Sasai et al, 2017, Journal of Inherited Metabolic Disease CrossRef
  5. Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
    Yoshihito Kishita et al, 2021, Human Mutation CrossRef
  6. Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder
    Taichi Imaizumi et al, 2018, Intractable & Rare Diseases Research CrossRef
  7. Assessment of Risk for Hereditary Retinoblastoma
    Arupa Ganguly et al, 2022, Albert and Jakobiec's Principles and Practice of Ophthalmology CrossRef
  8. A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy
    Lu Yuan et al, 2015, Calcified Tissue International CrossRef
  9. 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report
    XIAOSHENG HAO et al, 2016, Experimental and Therapeutic Medicine CrossRef
  10. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
    Sarah C. Grünert et al, 2020, Orphanet Journal of Rare Diseases CrossRef
  11. Assessment of Risk for Hereditary Retinoblastoma
    Arupa Ganguly et al, 2021, Albert and Jakobiec's Principles and Practice of Ophthalmology CrossRef
  12. Detection of RB1 Gene Copy Number Variations Using a Multiplex Ligation-Dependent Probe Amplification Method
    Nejat Dalay, 2018, The Retinoblastoma Protein CrossRef
  13. Enzymes involved in branched-chain amino acid metabolism in humans
    María M. Adeva-Andany et al, 2017, Amino Acids CrossRef