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Natural history and outcome of nonketotic hyperglycinemia in China.
- Published in:
- Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1440883
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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
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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- Publication type:
- Article
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
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- 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
The Role of the Gut Microbiome in the Development of Acute Pancreatitis.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1159, doi. 10.3390/ijms25021159
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- Article
Features of liver injury in 138 Chinese patients with NICCD.
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- 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
RESEARCH ON WIDE SPECTRUM FULL-COLOR NIGHT VISION ELDERLY FACIAL VIDEO HEART RATE AUTOMATIC MEASUREMENT AND WARNING SYSTEM.
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- Journal of Mechanics in Medicine & Biology, 2023, v. 23, n. 8, p. 1, doi. 10.1142/S0219519423400717
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- Publication type:
- Article
Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.
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- BMC Neuroscience, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12868-022-00755-3
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- Publication type:
- Article
A NEW WEARABLE BRACE MONITORING MULTIPLE PHYSIOLOGICAL PARAMETERS BASED ON THE NB-IoT TECHNIQUE.
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- Journal of Mechanics in Medicine & Biology, 2022, v. 22, n. 8, p. 1, doi. 10.1142/S0219519422400413
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- Publication type:
- Article
Thyroid function in children with Prader-Willi syndrome in Southern China: a single-center retrospective case series.
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- 2022
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- Publication type:
- journal article
Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
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- 2022
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- Publication type:
- journal 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
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- Publication type:
- Article
Features of chinese patients with sitosterolemia.
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- Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-021-01619-1
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- Publication type:
- Article
The EGFR‐P38 MAPK axis up‐regulates PD‐L1 through miR‐675‐5p and down‐regulates HLA‐ABC via hexokinase‐2 in hepatocellular carcinoma cells.
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- Cancer Communications, 2021, v. 41, n. 1, p. 62, doi. 10.1002/cac2.12117
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- Publication type:
- Article
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
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- Pediatric Gastroenterology, Hepatology & Nutrition, 2020, v. 23, n. 6, p. 558, doi. 10.5223/pghn.2020.23.6.558
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- Publication type:
- Article
'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets.
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- European Journal of Endocrinology, 2020, v. 182, n. 1, p. K1, doi. 10.1530/EJE-19-0472
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- Article
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
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- 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 features, <italic>BTD</italic> gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 589, doi. 10.1002/ajmg.a.38601
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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.
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- Metabolic Brain Disease, 2017, v. 32, n. 3, p. 765, doi. 10.1007/s11011-017-9959-6
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- Publication type:
- Article
The effect of fertility stress on endometrial and subendometrial blood flow among infertile women.
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- Reproductive Biology & Endocrinology, 2017, v. 15, p. 1, doi. 10.1186/s12958-017-0236-7
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- Publication type:
- 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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- 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
First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
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- 2013
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- Publication type:
- Abstract
Detection of inborn error of metabolisms by urine organic acid GC-MS in Southern China.
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- 2013
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- 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
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- Publication type:
- Article