Paediatric Metabolic Diseases

Doç. Dr. Nafiye Emel Çakar

Doctor and researcher İstanbul Prof. Dr. Cemil Taşcıoğlu Şehir Hastanesi İstanbul
Metabolism, Inborn ErrorsGlycogen Storage DiseaseDevelopmental DisabilitiesIntestinal Pseudo-ObstructionOphthalmoplegiaMitochondrial Encephalomyopathies
Open institution page
Suggest a correction

Is this your profile? Claim it and verify your details.

Claim profile

Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Metabolism, Inborn Errors 3 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Glycogen Storage Disease 2 publications
  • Developmental Disabilities 2 publications
  • Intestinal Pseudo-Obstruction 2 publications
  • Ophthalmoplegia 2 publications
  • Mitochondrial Encephalomyopathies 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
  • Institutionİstanbul Prof. Dr. Cemil Taşcıoğlu Şehir Hastanesisaglik.gov.trFrom source
  • Area of workMetabolism, Inborn ErrorsExtracted from 3 publications · Model version —From source
  • Publications37 publicationsORCID, OpenAlexFrom source
  • ORCID0000-0003-2036-4082ORCIDFrom source
  • Last synchronised5 November 2026 08:55https://cemiltascioglush.saglik.gov.tr/TR-1560059/doktorlarimiz.html#nafiye-emel-cakarsaglik.gov.tr

Scientific work

Publications on Metabolism, Inborn Errors

37 publications

  1. A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2025-0654 PMID 42090597 Source: ORCID

  2. Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2026-0219 PMID 42544393 Source: ORCID

  3. The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2026-0186 PMID 42296296 Source: ORCID

  4. Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes

    The Italian Journal of Pediatrics/Italian journal of pediatrics, 2026

    DOI 10.1186/s13052-026-02284-9 PMID 42210298 Open-access full textSource: OpenAlex

  5. 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

  6. 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

  7. Pregnancy in women with inherited metabolic disorders: maternal and offspring outcomes with long-term follow-up

    Orphanet Journal of Rare Diseases, 2026

    DOI 10.1186/s13023-026-04691-x Open-access full textSource: OpenAlex

  8. Sensitivity to food additives in autism spectrum disorder: effects and implications

    International Journal of Developmental Disabilities, 2025

    DOI 10.1080/20473869.2025.2499861 1 citation (OpenAlex) Source: ORCID

  9. Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease

    Frontiers in Neurology, 2025

    DOI 10.3389/fneur.2025.1657852 PMID 41438888 1 citation (Europe PMC) Open-access full textSource: ORCID

  10. Mukopolisakkaridozis Tip IV Hastalarının Klinik İzlemlerinin Değerlendirilmesi

    Kocaeli Üniversitesi - AVESİS, 2025

    Open-access full textSource: OpenAlex

View all 37 publications