Paediatric Metabolic Diseases

Uzm. Dr. Bilge Noyan

Intestinal Pseudo-ObstructionOphthalmoplegiaMitochondrial Encephalomyopathies

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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Intestinal Pseudo-Obstruction 2 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Ophthalmoplegia 2 publications
  • Mitochondrial Encephalomyopathies 2 publications

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  • SpecialtyPaediatric Metabolic Diseasessaglik.gov.trFrom source
  • InstitutionSancaktepe Şehit Prof. Dr. İlhan Varank Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Area of workIntestinal Pseudo-ObstructionExtracted from 2 publications · Model version —From source
  • Publications8 publicationsEurope PMC, ORCID, OpenAlexFrom source
  • ORCID0000-0003-4352-4712ORCIDFrom source
  • Last synchronised5 November 2026 08:56https://sancaktepeah.saglik.gov.tr/TR-1485771/doktorlarimiz.html#bilge-noyansaglik.gov.tr

Scientific work

Publications on Intestinal Pseudo-Obstruction

8 publications
  1. Cardiac involvement across mucopolysaccharidosis subtypes: insights from a longitudinal single-center study

    Journal of pediatric endocrinology & metabolism : JPEM, 2026

    DOI 10.1515/jpem-2025-0675 PMID 42117517 Source: Europe PMC

  2. Serum Homocysteine, Insulin Resistance, and Metabolic Risk Factors in Children and Adolescents with Obesity: A Retrospective Cross-Sectional Study

    Journal of Clinical Medicine, 2026

    DOI 10.3390/jcm15062216 PMID 41899140 Open-access full textSource: ORCID

  3. Developmental outcomes of children with biotinidase deficiency and the psychological state of their parents

    European journal of pediatrics, 2025

    DOI 10.1007/s00431-025-06066-z PMID 40064641 Source: Europe PMC

  4. Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series

    Molecular Syndromology, 2024

    DOI 10.1159/000535888 PMID 38841321 4 citations (OpenAlex) Open-access full textSource: OpenAlex

  5. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107712 PMID 37084649 4 citations (OpenAlex) Source: OpenAlex

  6. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107893 PMID 37455189 Source: OpenAlex

  7. Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

    Human Mutation, 2019

    DOI 10.1002/humu.23752 PMID 31228227 36 citations (OpenAlex) Open-access full textSource: OpenAlex

  8. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

    Journal of Human Genetics, 2017

    DOI 10.1038/jhg.2017.38 PMID 28331220 39 citations (OpenAlex) Open-access full textSource: OpenAlex