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A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
- Published in:
- Balkan Medical Journal, 2017, v. 34, n. 6, p. 580, doi. 10.4274/balkanmedj.2016.1376
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- 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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- Article
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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- Article
Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis.
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- Journal of Pediatric Research, 2019, v. 6, n. 2, p. 121, doi. 10.4274/jpr.galenos.2018.21548
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- Article
Urea Cycle Disorders in Neonates: Six Case Reports.
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- Journal of Pediatric Research, 2017, v. 4, n. 2, p. 85, doi. 10.4274/jpr.52724
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- Article
Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures.
- Published in:
- Journal of Pediatric Research, 2016, v. 3, n. 2, p. 113, doi. 10.4274/jpr.25338
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- Article
Dallı Zincirli Aminoasidopati Sonucu Gelişen Organik Asidemiler: Ege Tıp Deneyimi.
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- Journal of Pediatric Research, 2016, v. 3, n. 2, p. 76, doi. 10.4274/jpr.76598
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- Article
Two cases of MEGDHEL syndrome diagnosed with hyperammonemia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 2, p. 203, doi. 10.1515/jpem-2022-0418
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- Article