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Üre Döngüsü Enzim Eksikliği Tanısı ile İzlenen 20 Hastanın Klinik ve Moleküler Özelliklerinin Değerlendirilmesi: Sekiz Yeni Mutasyon ile Çukurova Üniversitesi Deneyimi.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2020, v. 14, n. 2, p. 119, doi. 10.12956/tjpd.2018.397
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- Publication type:
- Article
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 3, p. 261, doi. 10.4274/jcrpe.galenos.2020.2019.0191
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- Article
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63545
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- Article
Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu.
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- Mersin Üniversitesi sağlık Bilimleri Dergisi, 2021, v. 14, n. 2, p. 354, doi. 10.26559/mersinsbd.808861
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- Article
GALAKTOZEMİ VE SİTUS İNVERSUS TOTALİS BERABERLİĞİ: NADİR BİR OLGU SUNUMU.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2020, v. 83, n. 2, p. 168, doi. 10.26650/IUITFD.2019.0061
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- Article
Congenital erythropoietic porphyria with erythrodontia: A case report.
- Published in:
- International Journal of Paediatric Dentistry, 2019, v. 29, n. 4, p. 542, doi. 10.1111/ipd.12473
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- Article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
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- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1223, doi. 10.1007/s11011-018-0236-0
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- Article
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
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- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 977, doi. 10.1007/s11011-017-0152-8
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- Article
Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.
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- Journal of Paediatrics & Child Health, 2023, v. 59, n. 11, p. 1238, doi. 10.1111/jpc.16488
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- Article
Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 681, doi. 10.1515/jpem-2021-0580
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- Publication type:
- Article
Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 10, p. 1335, doi. 10.1515/jpem-2021-0258
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- Publication type:
- Article
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 7, p. 713, doi. 10.1515/jpem-2016-0461
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- Publication type:
- Article
An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 2, p. 237, doi. 10.1515/jpem-2016-0324
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- Publication type:
- Article
Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 484, doi. 10.1002/jmd2.12315
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- Article
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
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- Turkish Journal of Medical Sciences, 2021, v. 51, n. 3, p. 1220, doi. 10.3906/sag-2001-72
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- Article
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 5, p. 831, doi. 10.24953/turkjped.2020.05.016
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- Article
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
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- Turkish Journal of Pediatrics, 2019, v. 61, n. 3, p. 330, doi. 10.24953/turkjped.2019.03.003
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- Article
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 584, doi. 10.24953/turkjped.2018.05.019
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- Article
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.
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- Turkish Journal of Pediatrics, 2017, v. 59, n. 4, p. 434, doi. 10.24953/turkjped.2017.04.010
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- Article
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.
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- 2021
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- Publication type:
- journal article
Evaluation of bone health in patients with mucopolysaccharidosis.
- Published in:
- Journal of Bone & Mineral Metabolism, 2022, v. 40, n. 3, p. 498, doi. 10.1007/s00774-021-01304-4
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- Publication type:
- Article
A NOVEL VARIATION OF GAMT IN CEREBRAL CREATINE DEFICIENCY SYNDROME, FIRST COMPLETE HOMOZYGOUS DELETION OF GAMT.
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- Genetika (0534-0012), 2023, v. 55, n. 1, p. 415, doi. 10.2298/GENSR2301415U
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- Article
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 7, p. 1, doi. 10.1002/pbc.30334
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- Publication type:
- Article
Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly, and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit.
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- Acibadem Saglik Bilimleri Dergisi, 2022, v. 13, n. 3, p. 369, doi. 10.31067/acusaglik.987546
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- Publication type:
- Article
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.
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- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 206, doi. 10.4274/jpr.galenos.2020.82621
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- Publication type:
- Article
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome.
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- Journal of Pediatric Research, 2018, v. 5, p. 54, doi. 10.4274/jpr.63825
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- Publication type:
- Article
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience.
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- Journal of Pediatric Research, 2018, v. 5, p. 7, doi. 10.4274/jpr.20982
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- Publication type:
- Article