Found: 27
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Diagnosis and Treatment of Newborns Referred to the Metabolism Department from the National Newborn Screening Program in Türkiye: A 5-Year Single-Center Experience.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2024, v. 18, n. 5, p. 274, doi. 10.12956/tchd.1454353
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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
A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 64, doi. 10.1159/000517761
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- 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
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
Scale consistance in cognitive status awareness of patients with Parkinson's disease.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2024, v. 30, n. 3, p. 185, doi. 10.55697/tnd.2024.139
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- Article
A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2016, v. 16, n. 1-2, p. 36, doi. 10.5222/j.child.2016.036
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- 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
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- Publication type:
- Article
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
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
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
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.
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- 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
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 5, p. 653, doi. 10.1515/jpem-2020-0367
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- Publication type:
- Article
Unmet Needs of Children with Inherited Metabolic Disorders in the COVID-19 Pandemic.
- Published in:
- Turkish Archives of Pediatrics, 2022, v. 57, n. 3, p. 335, doi. 10.5152/TurkArchPediatr.2022.21367
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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.
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- Turkish Archives of Pediatrics, 2021, v. 56, n. 3, p. 270, doi. 10.5152/TurkArchPediatr.2021.21023
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- Publication type:
- Article
Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience.
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- Turkish Journal of Medical Sciences, 2020, v. 50, n. 1, p. 12, doi. 10.3906/sag-1811-8
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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
Clinical course and outcome of glycogen-storage disease type 1a and type 1b.
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- 2013
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- Publication type:
- Journal Article
Glikojen depo tip 1a ve tip 1b olgular.
- Published in:
- Türk Pediatri Arşivi, 2013, v. 48, n. 2, p. 117, doi. 10.4274/tpa.185
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- Publication type:
- Article
Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.
- Published in:
- Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 540, doi. 10.24953/turkjped.2018.05.011
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- Publication type:
- Article
The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 5, p. 522
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- Publication type:
- Article
Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases.
- Published in:
- Balkan Medical Journal, 2022, v. 39, n. 2, p. 96, doi. 10.5152/balkanmedj.2021.21141
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- Publication type:
- Article
Association Between Soluble CD40 Ligand and Hypercholesterolemia in Children and Adolescents.
- Published in:
- Journal of Pediatric Research, 2017, v. 4, n. 1, p. 1, doi. 10.4274/jpr.24654
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- Publication type:
- Article