Found: 9
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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
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- Publication type:
- Article
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03210-0
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- Publication type:
- Article
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.
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- Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1085210
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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
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
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
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- Publication type:
- Article
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 3/4, p. 375, doi. 10.1515/jpem-2014-0164
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- Publication type:
- Article
Detection of inborn error of metabolisms by urine organic acid GC-MS in Southern China.
- Published in:
- 2013
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- Publication type:
- Abstract
Establishment of reference range of plasma amino acids for younger Chinese children by reverse phase HPLC.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 9/10, p. 733, doi. 10.1515/JPEM.2011.270
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- Publication type:
- Article