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Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 257, doi. 10.1159/000536069
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- Publication type:
- Article
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 231, doi. 10.1159/000528192
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- Publication type:
- Article
Kırmızı yansıma testi ile katarakt saptanan bir süt çocuğu olgusu.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2014, v. 57, n. 2, p. 97
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- Publication type:
- Article
Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
- Published in:
- Pediatrics International, 2010, v. 52, n. 1, p. 145, doi. 10.1111/j.1442-200X.2009.02943.x
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- Publication type:
- Article
Teknoloji Bağımlısı Çocuklarda Obeziteye Neden Olan Risk Faktörleri.
- Published in:
- Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2019, v. 8, n. 2, p. 72
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- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Publication type:
- Article
Dirençli Gram Pozitif İnfeksiyon Tedavisinde Vankomisin ve Linezolid Kombinasyonu: Vaka Sunumu.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2018, v. 18, n. 2, p. 93, doi. 10.5222/j.child.2018.58224
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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
Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On Beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu.
- Published in:
- 2011
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- Publication type:
- Case Study
Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 2, p. 167, doi. 10.1515/jpem-2022-0230
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- Publication type:
- Article
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 763, doi. 10.1007/s10545-014-9676-9
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- Publication type:
- Article
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6
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- Publication type:
- Article
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-10
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- Publication type:
- Article