Found: 6
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A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00215-x
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- Article
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
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- Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 4, p. 598, doi. 10.1007/s00774-020-01193-z
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- Article
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 451, doi. 10.1515/jpem-2021-0278
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- Article
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 6, p. 805, doi. 10.1515/jpem-2020-0655
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- Article
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
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- JPEN Journal of Parenteral & Enteral Nutrition, 2021, v. 45, n. 8, p. 1788, doi. 10.1002/jpen.2121
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- Article
Fosfomevalonat kinaz enzim eksikliğine bağlı hiperimmünoglobulin D sendromu mu?
- Published in:
- Journal of Turkish Society for Rheumatology, 2022, v. 14, p. 29
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- Article