Found: 55
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Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 6, p. 1387, doi. 10.1007/s00467-021-05329-9
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- Publication type:
- Article
Evaluation of the efficacy and associated complications of regional citrate anticoagulation in neonates: experience from a fourth level neonatal intensive care unit.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 11, p. 4897, doi. 10.1007/s00431-023-05162-2
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- Publication type:
- Article
The Effect of Ketogenic Diet on Serum Selenium Levels in Patients with Intractable Epilepsy.
- Published in:
- Biological Trace Element Research, 2017, v. 178, n. 1, p. 1, doi. 10.1007/s12011-016-0897-7
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- Publication type:
- Article
Outcomes of Dyslipidemia Screening Program in School-aged Children.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 155, doi. 10.4274/jpr.galenos.2020.02693
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- Publication type:
- Article
Knowledge of Primary Care Physicians on Lysosomal Storage Disorders.
- Published in:
- Journal of Pediatric Research, 2019, v. 6, n. 4, p. 292, doi. 10.4274/jpr.galenos.2019.83713
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- Publication type:
- Article
Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis.
- Published in:
- Journal of Pediatric Research, 2017, v. 4, n. 2, p. 59, doi. 10.4274/jpr.15870
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- Publication type:
- Article
Antineutrophil Cytoplasmic Antibody-Positive Glomerulonephritis Associated with Long-Term Propylthiouracil Treatment in Children.
- Published in:
- 2014
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- Publication type:
- Case Study
Congenital Disorder of Glycosylation: Clinical and ID Molecular Characteristics of 9 Patients from Turkey.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2020, v. 10, n. 3, p. 267, doi. 10.5222/buchd.2020.09471
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- Publication type:
- Article
Klasik Fenilketonüri Tanılı Olgularda Fenilalaninden ID Kısıtlı Diyetin Antropometrik Ölçümler Üzerine Etkisi.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2019, v. 9, n. 1, p. 29, doi. 10.5222/buchd.2019.79663
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- Publication type:
- Article
Yenidoğan döneminde perkütan nefrostomi uygulaması: Olgu sunumu.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2013, v. 3, n. 3, p. 215, doi. 10.5222/buchd.2013.215
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- Publication type:
- Article
Postnatal dönemde ürolojik anomali saptanamayan antenatal hidronefroz tanılı bebeklerde sünnetin idrar yolu infeksiyonu ve büyüme üzerine etkisi.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2013, v. 3, n. 1, p. 23, doi. 10.5222/buchd.2013.023
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- Publication type:
- Article
Çocuklarda B12 Vitamin Düzeyi ve Periferik Tam Kan Sayımı Değerleri İle İlişkisi.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2012, v. 2, n. 2, p. 75, doi. 10.5222/buchd.2012.075
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- Publication type:
- Article
A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening.
- Published in:
- Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2023, v. 76, n. 3, p. 287, doi. 10.4274/atfm.galenos.2023.50023
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- Publication type:
- Article
Serum Chitotriosidase Activity in Bronchopulmonary Dysplasia: A Cross-Sectional Study.
- Published in:
- Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2022, v. 75, n. 4, p. 491, doi. 10.4274/atfm.galenos.2022.77487
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- Publication type:
- Article
Co-Occurring Atypical Galactosemia and Wilson Disease.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 454, doi. 10.1159/000524004
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- Publication type:
- Article
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 240, doi. 10.1159/000520502
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- Publication type:
- Article
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 146, doi. 10.1159/000518825
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- Publication type:
- Article
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 69, doi. 10.1159/000517797
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- Publication type:
- Article
A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 64, doi. 10.1159/000517761
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- Publication type:
- Article
A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 294, doi. 10.1159/000515928
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- Publication type:
- Article
Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience.
- Published in:
- Medical Journal of Bakirkoy, 2020, v. 16, n. 1, p. 49, doi. 10.5222/BMJ.2020.91855
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- Publication type:
- Article
Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 2, p. 92, doi. 10.1159/000502740
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- Publication type:
- Article
Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 3, p. 260, doi. 10.1515/jpem-2023-0490
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- Publication type:
- Article
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 3, p. 280, doi. 10.1515/jpem-2023-0411
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- Publication type:
- Article
A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 11, p. 1061, doi. 10.1515/jpem-2023-0337
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- Publication type:
- Article
IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 11, p. 1100, doi. 10.1515/jpem-2023-0272
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- Publication type:
- Article
The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 10, p. 1341, doi. 10.1515/jpem-2021-0108
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- Publication type:
- Article
Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 7, p. 947, doi. 10.1515/jpem-2020-0646
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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
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 11, p. 1487, doi. 10.1515/jpem-2020-0096
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- Publication type:
- Article
Cascade screening and treatment of children with familial hypercholesterolemia in Turkey.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1251, doi. 10.1515/jpem-2020-0234
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- Publication type:
- Article
Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1245, doi. 10.1515/jpem-2020-0056
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- Publication type:
- Article
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 7, p. 675, doi. 10.1515/jpem-2018-0457
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- Publication type:
- Article
Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 11, p. 1289, doi. 10.1515/jpem-2018-0280
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- Publication type:
- Article
Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 4, p. 411, doi. 10.1515/jpem-2016-0281
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- Publication type:
- Article
Reply: Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 5, p. 938, doi. 10.24953/turkjped.2021.05.025
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- Publication type:
- Article
Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 4, p. 652, doi. 10.24953/turkjped.2020.04.016
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- Publication type:
- Article
Atypical clinical manifestations of hepatitis a among children aged 1-16 years in South-Eastern Region of Turkey.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 4, p. 339
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- Publication type:
- Article
A case with Gaucher disease unable to reach enzyme replacement therapy because of COVID-19 quarantine: The first case from Turkey.
- Published in:
- Turkish Archives of Pediatrics, 2021, v. 56, n. 3, p. 270, doi. 10.5152/TurkArchPediatr.2021.21023
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- Publication type:
- Article
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 3, p. 1103, doi. 10.1007/s10072-021-05067-8
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- Publication type:
- Article
Analysis of hematological parameters in patients treated with ketogenic diet due to drug-resistant epilepsy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
- Published in:
- Turkish Journal of Medical Sciences, 2022, v. 52, n. 4, p. 1075, doi. 10.55730/1300-0144.5410
- By:
- Publication type:
- Article
Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic.
- Published in:
- Telemedicine & e-Health, 2022, v. 28, n. 11, p. 1604, doi. 10.1089/tmj.2021.0610
- By:
- Publication type:
- Article
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
- Published in:
- Neurosciences, 2017, v. 22, n. 2, p. 131, doi. 10.17712/nsj.2017.2.20160468
- By:
- Publication type:
- Article
The Effect of Rapid Antigen Detection Test on Antibiotic Prescription Decision of Clinicians and Reducing Antibiotic Costs in Children with Acute Pharyngitis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical and Laboratory Features of Hospitalized Children with Pandemic Influenza: Is it Different from the Other Respiratory Tract Infections?
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Hastaneye Yatırılan Pandemik İnfluenza Tanılı Çocukların Klinik ve Laboratuvar Özellikleri: Diğer Solunum Yolu Enfeksiyonlarından Farklı mı?
- Published in:
- Journal of Pediatric Infection / Çocuk Enfeksiyon Dergisi, 2012, v. 6, n. 4, p. 144, doi. 10.5152/ced.2012.41
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- Publication type:
- Article
Alt Solunum Yolu Enfeksiyonlu Çocuklarda Serum Sodyum Düzeyi.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Alt Solunum Yolu Enfeksiyonlu Çocuklarda Serum Sodyum Düzeyi.
- Published in:
- Journal of Pediatric Infection / Çocuk Enfeksiyon Dergisi, 2011, v. 5, n. 3, p. 100, doi. 10.5152/ced.2011.36
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- Publication type:
- Article
Henoch-Schönlein purpura in two pediatric patients presenting as terminal ileitis.
- Published in:
- 2015
- By:
- Publication type:
- journal article