Found: 16
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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
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- Publication type:
- Article
Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu.
- Published in:
- Mersin Üniversitesi sağlık Bilimleri Dergisi, 2021, v. 14, n. 2, p. 354, doi. 10.26559/mersinsbd.808861
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- Publication type:
- Article
Congenital erythropoietic porphyria with erythrodontia: A case report.
- Published in:
- International Journal of Paediatric Dentistry, 2019, v. 29, n. 4, p. 542, doi. 10.1111/ipd.12473
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- Publication type:
- Article
Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2023, v. 23, n. 3, p. 31, doi. 10.26650/jchild.2023.1345981
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- Publication type:
- Article
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 495, doi. 10.1007/s11011-019-0391-y
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- Publication type:
- Article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1223, doi. 10.1007/s11011-018-0236-0
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- Publication type:
- Article
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 977, doi. 10.1007/s11011-017-0152-8
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- Publication type:
- Article
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 543, doi. 10.1515/jpem-2024-0091
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- Publication type:
- Article
A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02783-6
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- Publication type:
- Article
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
- Published in:
- Metabolic Brain Disease, 2022, v. 37, n. 4, p. 1283, doi. 10.1007/s11011-022-00942-5
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- Publication type:
- Article
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 3, p. 330, doi. 10.24953/turkjped.2019.03.003
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- Article
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.
- Published in:
- 2021
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- Publication type:
- journal article
Evaluation of bone health in patients with mucopolysaccharidosis.
- Published in:
- Journal of Bone & Mineral Metabolism, 2022, v. 40, n. 3, p. 498, doi. 10.1007/s00774-021-01304-4
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- Publication type:
- Article
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.
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- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 206, doi. 10.4274/jpr.galenos.2020.82621
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- Publication type:
- Article
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 54, doi. 10.4274/jpr.63825
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- Publication type:
- Article
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 7, doi. 10.4274/jpr.20982
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- Publication type:
- Article