Found: 13
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Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.
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- Liver International, 2024, v. 44, n. 9, p. 2424, doi. 10.1111/liv.16009
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- Article
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
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- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2377, doi. 10.1007/s00467-024-06356-y
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- Article
Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China.
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- Diabetology & Metabolic Syndrome, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13098-022-00812-1
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- Article
Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
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- Calcified Tissue International, 2022, v. 110, n. 2, p. 266, doi. 10.1007/s00223-021-00909-1
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- Article
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 5/6, p. 681, doi. 10.1515/jpem-2014-0058
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- Article
First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
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- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 7/8, p. 795, doi. 10.1515/jpem-2012-0185
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- Article
Identification of miRNAs and their targets in two Taraxacum species with contrasting rubberproducing ability.
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- Frontiers in Plant Science, 2023, v. 14, p. 1, doi. 10.3389/fpls.2023.1287318
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- Article
First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
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- 2013
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- Abstract
Geneotype and phenotype in 20 patients with glycogen storage disease type Ia.
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- 2013
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- Abstract
Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.
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- European Journal of Ophthalmology, 2023, v. 33, n. 5, p. NP1, doi. 10.1177/11206721221132874
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- Article
Molecular diagnosis of maturity‐onset diabetes of the young in a cohort of Chinese children.
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- Pediatric Diabetes, 2020, v. 21, n. 3, p. 431, doi. 10.1111/pedi.12985
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- Article
Modified nusinersen intrathecal injection method: inclusion of a septal needle-free closed infusion connector.
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- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1234442
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- Article
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.
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- Metabolic Brain Disease, 2024, v. 39, n. 5, p. 753, doi. 10.1007/s11011-024-01348-1
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- Article