Sebile Kılavuz (Sebile Kilavuz)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Topics

Peritoneal Dialysis

Replacement Therapy

Hypertrophic Cardiomyopathy

Top Venues

Orphanet journal of rare diseases

Journal of pediatric endocrinology & metabolism : JPEM

Metabolic brain disease

International journal of paediatric dentistry

This page only lists publications with an associated author ORCID identifier.

Publications

Ceren Alavanda, Emine İpek Ceylan, Sebile Kılavuz, Kismet Çıkı
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye. Journal of pediatric endocrinology & metabolism : JPEM 37 (6) (2024)
Ceren Alavanda, Emine İpek Ceylan, Sebile Kılavuz, Kismet Çıkı
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye. Journal of pediatric endocrinology & metabolism : JPEM (2024)
Ceren Alavanda, Emine İpek Ceylan, Sebile Kılavuz, Kismet Çıkı
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye. Journal of pediatric endocrinology & metabolism : JPEM 37 (6) (2024)
Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli, Engin Beydoğan
A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland. Orphanet journal of rare diseases 18 (1) (2023)
Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli, Engin Beydoğan
A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland. Orphanet journal of rare diseases 18 (1) (2023)
Isobel Platt, Atil Bisgin, Sebile Kılavuz
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli, Engin Beydoğan
A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland. Orphanet journal of rare diseases 18 (1) (2023)
Fatma Derya Bulut, Deniz Kor, Sebile Kılavuz, Ebru Cicek, Burcu Köseci, Esra Kara, Ezgi Burgac, İrem Kaplan, Halise Neslihan Onenli Mungan
Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria. Journal of paediatrics and child health (2023)
Sebile Kılavuz, Murat Basaranoglu, Serdar Epcacan, Derya Bako, Arife Ozer, Yasemin Nuran Donmez, Emine Ipek Ceylan, Ajlan Tukun, Serdar Ceylaner, Hadi Geylani, Halise Neslihan Onenli Mungan
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation. Metabolic brain disease 37 (4) (2022)
Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Serdar Ceylaner, Halise Neslihan Onenli Mungan
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series. Orphanet journal of rare diseases 16 (1) (2021)
Sebile Kılavuz, Fatma Derya Bulut, Deniz Kor, Berna Seker Yilmaz, Neslihan Özcan, Faruk Incecik, Hasan Bilen Onan, Gülay Ceylaner, Halise Neslihan Onenli Mungan
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS. Neuropediatrics 52 (5) (2021)
Berna Seker Yilmaz, Deniz Kor, Fatma Derya Bulut, Sebile Kılavuz, Serdar Ceylaner, Halise Neslihan Onenli Mungan
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia Turkish journal of medical sciences 51 (3) (2021)
Volkan Çiftçi, Sebile Kılavuz, Fatma Derya Bulut, Halise Neslihan Onenli Mungan, Serdar Ceylaner, Muharrem Cem Dogan
Congenital erythropoietic porphyria with erythrodontia: A case report. International journal of paediatric dentistry 29 (4) (2019)