Paediatric Metabolic Diseases

Doç. Dr. Sebile Kılavuz

Doctor and researcher Marmara Üniversitesi Pendik Eğitim ve Araştırma Hastanesi İstanbul
Gaucher DiseaseMucopolysaccharidosis IVGlycogen Storage Disease Type INeutropeniaLipid Metabolism, Inborn ErrorsPhenylketonuriasGlycogen Storage Disease Type IICystinosisPurpuraLysosomal Storage DiseasesAmino Acid Metabolism, Inborn Errors
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Gaucher Disease 4 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Mucopolysaccharidosis IV 3 publications
  • Glycogen Storage Disease Type I 3 publications
  • Neutropenia 3 publications
  • Lipid Metabolism, Inborn Errors 3 publications
  • Phenylketonurias 3 publications
  • Glycogen Storage Disease Type II 2 publications
  • Cystinosis 2 publications
  • Purpura 2 publications
  • Lysosomal Storage Diseases 2 publications
  • Amino Acid Metabolism, Inborn Errors 2 publications

Trust

Where does this information come from?

The source is stated next to each piece of information. If you see something wrong, you can suggest a correction.

  • SpecialtyPaediatric Metabolic Diseasessaglik.gov.trFrom source
  • InstitutionMarmara Üniversitesi Pendik Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Area of workGaucher DiseaseExtracted from 4 publications · Model version —From source
  • Publications62 publicationsOpenAlex, ORCIDFrom source
  • ORCID0000-0002-7527-2620ORCIDFrom source
  • Last synchronised5 November 2026 10:37https://marmaraeah.saglik.gov.tr/TR-1393218/doktorlarimiz.html#sebile-kilavuzsaglik.gov.tr

Scientific work

Publications on Gaucher Disease

62 publications

  1. Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

    Molecular Genetics and Metabolism, 2026

    DOI 10.1016/j.ymgme.2026.110195 PMID 42361657 Source: OpenAlex

  2. Clinical, biochemical, and genetic perspectives in hepatic glycogen storage diseases: HEPA-GSD study

    Molecular Genetics and Metabolism, 2026

    DOI 10.1016/j.ymgme.2026.110286 PMID 42843180 Source: OpenAlex

  3. Utility of Video-Based Sleep Assessment in Identifying Obstructive Sleep Apnea in Pediatric Mucopolysaccharidoses

    European Respiratory Journal, 2026

    DOI 10.1183/13993003.congress-2026.pa2811 Source: OpenAlex

  4. Identification of Cerebrotendinous Xanthomatosis in High-Risk Children Using a Suspicion Index–Based Screening Strategy

    Research Square, 2026

    DOI 10.21203/rs.3.rs-10809714/v1 Open-access full textSource: OpenAlex

  5. A rare coexistence: tyrosinemia type III and Wolff–Parkinson–White syndrome

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2026-0078 PMID 41956115 Source: ORCID

  6. Two-year follow-up of musculoskeletal outcomes and quality of life in patients with mucopolysaccharidosis type IV and VI

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2025-0665 PMID 42333578 Source: ORCID

  7. Persistent Immune–Metabolic Activation in Mucopolysaccharidosis Type IVA Despite Therapeutic Intervention

    Research Square, 2026

    DOI 10.21203/rs.3.rs-9602557/v1 Open-access full textSource: OpenAlex

  8. Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study

    Journal of Inherited Metabolic Disease, 2026

    DOI 10.1002/jimd.70198 PMID 42070995 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  9. Multimodal ophthalmic findings in patients with mucopolysaccharidosis: A prospective observational study

    European Journal of Ophthalmology, 2026

    DOI 10.1177/11206721261496330 PMID 42852798 Source: OpenAlex

  10. The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

    Molecular genetics and metabolism, 2025

    DOI 10.1016/j.ymgme.2025.109713 PMID 41475178 2 citations (Europe PMC) Source: ORCID

View all 62 publications