Found: 23
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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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- Article
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 28, doi. 10.3390/ijns10020028
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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.
- Published in:
- Metabolic Brain Disease, 2024, v. 39, n. 5, p. 753, doi. 10.1007/s11011-024-01348-1
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- 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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- Article
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 8, p. e2331162, doi. 10.1001/jamanetworkopen.2023.31162
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- Article
Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based study.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 9, p. 1141, doi. 10.1515/jpem-2022-0107
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- Article
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
- Published in:
- 2022
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- 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
Possible Vicarious Traumatization Among Psychiatric Inpatients During the Remission Phase of the COVID-19: A Single-Center Cross-Sectional Study.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.677082
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- Article
A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy.
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- Experimental Biology & Medicine, 2021, v. 246, n. 11, p. 1330, doi. 10.1177/1535370221993052
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- Article
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.
- Published in:
- 2020
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- journal 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
The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1253, doi. 10.1515/jpem-2019-0140
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- Publication type:
- 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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- Article
Characteristics of Pompe disease in China: a report from the Pompe registry.
- Published in:
- 2019
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- journal 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
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 6, p. 2051, doi. 10.1007/s11011-018-0315-2
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- Article
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.
- Published in:
- 2018
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- Publication type:
- journal 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
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 1, p. 52, doi. 10.4274/jcrpe.3556
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- Publication type:
- Article
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
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- Metabolic Brain Disease, 2016, v. 31, n. 4, p. 861, doi. 10.1007/s11011-016-9819-9
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- Publication type:
- Article
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
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- Metabolic Brain Disease, 2015, v. 30, n. 6, p. 1439, doi. 10.1007/s11011-015-9717-6
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- Article
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.
- Published in:
- BMC Medical Genomics, 2014, v. 7, p. 1, doi. 10.1186/s12920-014-0066-9
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- Publication type:
- Article