Associated Papers
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
Gul R et al.
Frontiers in Genetics, 2023
Estimation of hereditary fructose intolerance prevalence in the Chinese population.
Tang M et al.
Orphanet Journal of Rare Diseases, 2022
36028839 (PubMed )
Supplement: 13023_2022_2487_MOESM1_ESM.xlsx › TableS1
Epidemiological aspects of hereditary fructose intolerance: A database study.
Pinheiro FC et al.
Human Mutation, 2021
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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