Found: 17
Select item for more details and to access through your institution.
PRİMER HİPEROKSALÜRİ TANISI ALAN SÜT ÇOCUĞU OLGUSU.
- Published in:
- Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi, 2018, v. 5, p. 289
- By:
- Publication type:
- Article
The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 4, p. 370, doi. 10.4274/jpr.galenos.2020.98250
- By:
- Publication type:
- Article
The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 3, p. 257, doi. 10.4274/jpr.galenos.2020.13334
- By:
- Publication type:
- Article
"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 47, doi. 10.4274/jpr.55477
- By:
- Publication type:
- Article
Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 333, doi. 10.1159/000536676
- By:
- Publication type:
- Article
Decreased antioxidant capacity with serum native thiol and total thiol levels in children with hemophilia A: a prospective case-control study.
- Published in:
- Turkish Journal of Pediatrics, 2022, v. 64, n. 5, p. 876, doi. 10.24953/turkjped.2022.73
- By:
- Publication type:
- Article
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 282, doi. 10.24953/turkjped.2019.02.021
- By:
- Publication type:
- Article
Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features.
- Published in:
- Turkish Journal of Medical Sciences, 2020, v. 50, n. 4, p. 1048, doi. 10.3906/sag-1908-70
- By:
- Publication type:
- Article
Encephalocraniocutaneous lipomatosis with Wilms' tumor.
- Published in:
- Pediatrics International, 2017, v. 59, n. 7, p. 835, doi. 10.1111/ped.13288
- By:
- Publication type:
- Article
Fonksiyonel kabızlığı olan çocuklarda probiyotik ve laktuloz tedavilerinin etkinliğinin karşılaştırılması ve kabızlık tedavisinin yaşam kalitesi üzerine olan etkisinin değerlendirilmesi
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2013, v. 56, n. 1, p. 1
- By:
- Publication type:
- Article
Correction: Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Diagnostic Dilemma: Osteopetrosis with superimposed rickets causing Neonatal Hypocalcemia.
- Published in:
- Journal of Tropical Pediatrics, 2015, v. 61, n. 2, p. 146, doi. 10.1093/tropej/fmv001
- By:
- Publication type:
- Article
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1213, doi. 10.1007/s11011-021-00718-3
- By:
- Publication type:
- Article
A Newborn with an Alternative Porto-Caval Shunt.
- Published in:
- Polish Journal of Radiology, 2017, v. 82, p. 320, doi. 10.12659/PJR.900726
- By:
- Publication type:
- Article
An Unusual Case of Biotinidase Deficiency with Fingertip Desquamation.
- Published in:
- Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2021, v. 15, n. 3, p. 74, doi. 10.4103/tjd.tjd_34_21
- By:
- Publication type:
- Article