Bilimsel çalışmalar

Doç. Dr. Sebile Kılavuz

62 yayın. Her yayının yanında bilginin kaynağı yazar.

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  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 Kaynak: 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 Kaynak: 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 Kaynak: 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 Açık erişimli tam metinKaynak: 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 Kaynak: 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 Kaynak: ORCID

  7. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

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

    Research Square, 2026

    DOI 10.21203/rs.3.rs-9602557/v1 Açık erişimli tam metinKaynak: OpenAlex

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

    European Journal of Ophthalmology, 2026

    DOI 10.1177/11206721261496330 PMID 42852798 Kaynak: 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 atıf (Europe PMC) Kaynak: ORCID

  11. Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations

    European Journal of Endocrinology, 2025

    DOI 10.1093/ejendo/lvaf094 PMID 40326779 1 atıf (Europe PMC) Kaynak: ORCID

  12. Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye

    Turkish Journal of Medical Sciences, 2025

    DOI 10.55730/1300-0144.6005 PMID 40686712 Açık erişimli tam metinKaynak: ORCID

  13. The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder

    European Journal of Pediatrics, 2025

    DOI 10.1007/s00431-025-06216-3 PMID 40448841 5 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  14. Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes

    Orphanet Journal of Rare Diseases, 2025

    DOI 10.1186/s13023-025-04054-y PMID 41152894 3 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  15. OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses

    BMJ Paediatrics Open, 2024

    DOI 10.1136/bmjpo-2024-epac.103 Açık erişimli tam metinKaynak: OpenAlex

  16. Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye

    The Turkish Journal of Pediatrics, 2024

    DOI 10.24953/turkjpediatr.2024.5075 PMID 39582447 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  17. Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye

    Journal of Pediatric Endocrinology and Metabolism, 2024

    DOI 10.1515/jpem-2024-0091 PMID 38706300 2 atıf (Europe PMC) Kaynak: ORCID

  18. Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

    Molecular Genetics and Metabolism, 2024

    DOI 10.1016/j.ymgme.2024.108486 PMID 38733639 14 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  19. A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland

    Orphanet Journal of Rare Diseases, 2023

    DOI 10.1186/s13023-023-02783-6 PMID 37391835 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  20. Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria

    Journal of Paediatrics and Child Health, 2023

    DOI 10.1111/jpc.16488 PMID 37700622 1 atıf (Europe PMC) Kaynak: ORCID

  21. Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype

    Neurological Sciences, 2023

    DOI 10.1007/s10072-023-06904-8 PMID 37458841 7 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  22. Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity- Transient neonatal cholestasis

    European Journal of Medical Genetics, 2023

    DOI 10.1016/j.ejmg.2023.104764 PMID 37061027 4 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  23. Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey

    Archives de Pediatrie, 2023

    DOI 10.1016/j.arcped.2023.04.006 PMID 37331832 1 atıf (Europe PMC) Kaynak: ORCID

  24. Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders

    Çocuk Dergisi / Journal of Child, 2023

    DOI 10.26650/jchild.2023.1345981 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  25. Çocuklarda Nörodejeneratif ve Nörometabolik Hastalıklar: Temel Bilgiler ve Olgularla Tanısal Yaklaşımlar

    Akademisyen Kitabevi eBooks, 2023

    DOI 10.37609/akya.2210 Açık erişimli tam metinKaynak: OpenAlex

  26. Ailelerin hiperfenilalaninemi tanılı çocukları besleme tutumlarının ebeveyn besleme tarzı anketi (PFSQ) İle değerlendirilmesi

    Dspace Repository (Marmara Üniversitesi), 2023

    Kaynak: OpenAlex

  27. A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

    Metabolic Brain Disease, 2022

    DOI 10.1007/s11011-022-00942-5 PMID 35254599 3 atıf (Europe PMC) Kaynak: OpenAlex

  28. More than tubular dysfunction: cystinosis and kidney outcomes

    Journal of Nephrology, 2022

    DOI 10.1007/s40620-021-01078-y PMID 34097292 3 atıf (Europe PMC) Kaynak: ORCID

  29. Etiological, clinical and biochemical characteristics of 367 children with early pubertal development from the Trakya region of Turkey

    Çukurova medical journal (Online)/Çukurova medical journal, 2022

    DOI 10.17826/cumj.1176227 Açık erişimli tam metinKaynak: OpenAlex

  30. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

    Genetics in Medicine, 2022

    DOI 10.1016/j.gim.2022.04.001 PMID 35503103 57 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  31. Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

    Archives de Pédiatrie, 2022

    DOI 10.1016/j.arcped.2022.05.003 PMID 35705384 6 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  32. Evaluation of bone health in patients with mucopolysaccharidosis

    Journal of Bone and Mineral Metabolism, 2022

    DOI 10.1007/s00774-021-01304-4 PMID 35066680 7 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  33. Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu

    Mersin Üniversitesi Sağlık Bilimleri Dergisi, 2021

    DOI 10.26559/mersinsbd.808861 Açık erişimli tam metinKaynak: ORCID

  34. An unusual case of biotinidase deficiency with fingertip desquamation

    Turk Dermatoloji Dergisi, 2021

    DOI 10.4103/tjd.tjd_34_21 Açık erişimli tam metinKaynak: ORCID

  35. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

    Turkish Journal of Medical Sciences, 2021

    DOI 10.3906/sag-2001-72 PMID 33453710 Açık erişimli tam metinKaynak: ORCID

  36. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Nature Communications, 2021

    DOI 10.1038/s41467-021-25515-5 PMID 34545092 32 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  37. Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

    Orphanet Journal of Rare Diseases, 2021

    DOI 10.1186/s13023-021-01761-0 PMID 33752727 14 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  38. Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

    The Journal of Pediatric Research, 2021

    DOI 10.4274/jpr.galenos.2020.82621 Açık erişimli tam metinKaynak: ORCID

  39. The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

    Neuropediatrics, 2021

    DOI 10.1055/s-0040-1722691 PMID 33578440 5 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  40. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

    The Journal of Pediatrics, 2021

    DOI 10.1016/j.jpeds.2021.08.070 PMID 34474089 21 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  41. Ketoliz defekti tanısıyla izlenen 16 hastanın klinik ve moleküler özelliklerinin incelenmesi: Tek merkez deneyimi

    Mersin Üniversitesi Sağlık Bilimleri Dergisi, 2020

    DOI 10.26559/mersinsbd.687295 Açık erişimli tam metinKaynak: ORCID

  42. COEXISTENCE OF TWO RARE DISORDERS GALACTOSEMIA AND SITUS INVERSUS TOTALIS: A CASE REPORT

    İstanbul Tıp Fakültesi Dergisi, 2020

    DOI 10.26650/iuitfd.2019.0061 Açık erişimli tam metinKaynak: ORCID

  43. First case report of Gaucher disease and Graves' thyroiditis

    Molecular Genetics and Metabolism, 2020

    DOI 10.1016/j.ymgme.2019.11.317 Kaynak: ORCID

  44. Vitamin B12 levels in patients with mucopolysaccharidosis

    Cukurova Medical Journal, 2020

    DOI 10.17826/cumj.687569 Açık erişimli tam metinKaynak: ORCID

  45. A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase

    Metabolic Brain Disease, 2019

    DOI 10.1007/s11011-019-0391-y PMID 30712135 7 atıf (Europe PMC) Kaynak: ORCID

  46. AN INTERESTING CASE DIAGNOSED AS BOTH PHENYLKETONURIA AND MATERNAL PHENYLKETONURIA

    Archives of Disease in Childhood, 2019

    DOI 10.1136/archdischild-2019-epa.769 Açık erişimli tam metinKaynak: ORCID

  47. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations

    Turkish Journal of Pediatrics, 2019

    DOI 10.24953/turkjped.2019.03.003 PMID 31916709 8 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  48. Congenital erythropoietic porphyria with erythrodontia: A case report

    International Journal of Paediatric Dentistry, 2019

    DOI 10.1111/ipd.12473 PMID 30706587 4 atıf (Europe PMC) Kaynak: ORCID

  49. FANCONI BICKEL SYNDROME AND RENAL TUBULAR DYSFUNCTION

    Archives of Disease in Childhood, 2019

    DOI 10.1136/archdischild-2019-epa.346 Açık erişimli tam metinKaynak: ORCID

  50. MUNCHAUSEN BY PROXY SYNDROME IN THREE SIBLINGS DIAGNOSED AS ISOVALERIC ACIDEMIA

    Archives of Disease in Childhood, 2019

    DOI 10.1136/archdischild-2019-epa.115 Açık erişimli tam metinKaynak: ORCID