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