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Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019.
- Published in:
- International Journal of Medical Biochemistry, 2022, v. 5, n. 1, p. 49, doi. 10.14744/ijmb.2021.44127
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- Publication type:
- Article
Kritik Çocuk Hastalarda Vazoaktif İlaç Kullanımının Hemodinami Üzerine Etkileri.
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- Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi, 2019, v. 6, n. 1, p. 24, doi. 10.4274/cayd.galenos.2019.40316
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- Publication type:
- Article
Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-023-01428-8
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- Publication type:
- Article
Leflunomid.
- Published in:
- Journal of Turkish Society for Rheumatology, 2022, v. 14, p. 274
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- Publication type:
- Article
Rituksimab tedavisine yanıtlı sarkoidoz: Bir olgu sunumu.
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- Journal of Turkish Society for Rheumatology, 2022, v. 14, p. 258
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- Publication type:
- Article
Primer Sjögren sendromu santral sinir sistemi tutulumu.
- Published in:
- Journal of Turkish Society for Rheumatology, 2022, v. 14, p. 234
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- Publication type:
- Article
Hadju cheney sendromu: Nadir bir akro-osteolizis nedeni.
- Published in:
- Journal of Turkish Society for Rheumatology, 2021, v. 13, p. 83
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- Publication type:
- Article
Hemofagositik senrdom ile seyreden sistemik lupus eritematosuz olgusu.
- Published in:
- Journal of Turkish Society for Rheumatology, 2018, n. Supp1, p. S190
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- Publication type:
- Article
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
Acute severe organophosphate poisoning in a child who was successfully treated with therapeutic plasma exchange, high-volume hemodiafiltration, and lipid infusion.
- Published in:
- Journal of Clinical Apheresis, 2016, v. 31, n. 5, p. 467, doi. 10.1002/jca.21417
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- Publication type:
- Article
Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.
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- Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4
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- Publication type:
- Article
Examination of Maternal-based Familial Factors in Malnourished Pediatric Patients Without Illness-Dependent Cause: A Single-center Case-control Study.
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- Medical Journal of Bakirkoy, 2021, v. 17, n. 4, p. 343, doi. 10.4274/BMJ.galenos.2021.83788
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- Publication type:
- Article
Inherited Metabolic Myopathies: Current Diagnosis and Treatment Approaches.
- Published in:
- Medical Journal of Bakirkoy, 2021, v. 17, n. 2, p. 108, doi. 10.4274/BMJ.galenos.2021.57804
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- Publication type:
- Article
Evaluation of Metabolic and Nutritional Status of Children with Autism Spectrum Disorders: Results of a Single Center in Turkey.
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- Medical Journal of Bakirkoy, 2020, v. 16, n. 3, p. 231, doi. 10.5222/BMJ.2020.44153
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- Publication type:
- Article
Gerilim Tipi Baş Ağrısı Olan Çocuklarda Vitamin B12 Eksikliği: Olgu-kontrol Çalışması.
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- Medical Journal of Bakirkoy, 2019, v. 15, n. 4, p. 388, doi. 10.4274/BTDMJB.galenos.2019.20190429082900
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- Publication type:
- Article
Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2012, v. 12, n. 3, p. 113, doi. 10.5222/j .child.2012.113
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- Publication type:
- Article
Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 519, doi. 10.1515/jpem-2021-0664
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- Publication type:
- Article
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 4, p. 417, doi. 10.1515/jpem-2020-0410
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- Publication type:
- Article
Cerebral infarction and femoral venous thrombosis detected in a patient with diabetic ketoacidosis and heterozygous factor V Leiden G1691A and PAI-1 4G/5G mutations.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 1183, doi. 10.1515/jpem-2015-0056
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- Publication type:
- Article
Diagnosis and Management of Hyperammonemia in Newborns: Is It Still a Challenge?
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- Iranian Journal of Neonatology, 2021, v. 12, n. 3, p. 40, doi. 10.22038/ijn.2021.54350.2001
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- Publication type:
- Article
Ağır serebral disgenezi ve hipotoni ile karakterize peroksizomal hastalık.
- Published in:
- Dicle Medical Journal / Dicle Tip Dergisi, 2015, v. 42, n. 4, p. 535, doi. 10.5798/diclemedj.0921.2015.04.0625
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- Publication type:
- Article
A rare structural myopathy: Nemaline myopathy.
- Published in:
- Türk Pediatri Arşivi, 2019, v. 54, n. 1, p. 49, doi. 10.5152/TurkPediatriArs.2018.4402
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- Publication type:
- Article
The correlation between bone biomarkers, glucosylsphingosine levels, and molecular findings in Gaucher type 1 patients under enzyme therapy.
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- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2022, v. 47, n. 4, p. 457, doi. 10.1515/tjb-2022-0002
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- Publication type:
- Article
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.
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- Clinical Case Reports, 2017, v. 5, n. 8, p. 1284, doi. 10.1002/ccr3.1013
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- Publication type:
- Article
Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome.
- Published in:
- 2022
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- Publication type:
- Letter
Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab.
- Published in:
- 2018
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- Publication type:
- Abstract
Inherited metabolic disorders among Turkish children with intellectual disability: A single-center experience.
- Published in:
- Annals of Medical of Research, 2021, v. 28, n. 3, p. 553, doi. 10.5455/annalsmedres.2020.03.184
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- Publication type:
- Article
Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech Disturbance.
- Published in:
- 2021
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- Publication type:
- Letter
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1987, doi. 10.3390/genes12121987
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- Publication type:
- Article
Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.
- Published in:
- Nutrients, 2018, v. 10, n. 12, p. 1944, doi. 10.3390/nu10121944
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- Publication type:
- Article