Found: 16
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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
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- Publication type:
- 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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- 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
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- Publication type:
- Article
Corrigendum for Li D, Lin Y, Huang Y, et al (2018) https://doi.org/10.1002/pd.5329.
- Published in:
- 2019
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- Publication type:
- journal article
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.
- Published in:
- 2018
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- Publication type:
- journal article
Features of liver injury in 138 Chinese patients with NICCD.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 12, p. 1154, doi. 10.1515/jpem-2023-0026
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- Publication type:
- Article
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 1, p. 74, doi. 10.1515/jpem-2022-0372
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- Publication type:
- Article
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
- Published in:
- 2019
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- Publication type:
- journal article
Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
- Published in:
- 2022
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- Publication type:
- journal 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
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- Publication type:
- Article
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 3, p. 765, doi. 10.1007/s11011-017-9959-6
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- Publication type:
- Article
Brain abnormalities in fucosidosis: transplantation or supportive therapy?
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 2, p. 317, doi. 10.1007/s11011-017-9968-5
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- Publication type:
- Article
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1451, doi. 10.1002/ajmg.a.61254
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- Publication type:
- Article
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 400, doi. 10.4274/jcrpe.galenos.2019.2019.0046
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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