Found: 5
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Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
- Published in:
- Metabolic Brain Disease, 2015, v. 30, n. 6, p. 1439, doi. 10.1007/s11011-015-9717-6
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- Publication type:
- Article
A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 5/6, p. 725, doi. 10.1515/jpem-2013-0441
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- Publication type:
- Article
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03137-6
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- Publication type:
- Article
Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY).
- Published in:
- 2018
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- Publication type:
- journal article
Value of the human chorionic gonadotropin stimulation test in the diagnosis of disorder of sexual development in children.
- Published in:
- Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 2, p. 158, doi. 10.7499/j.issn.1008-8830.2309090
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- Publication type:
- Article