PubMed Clinical Queries
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Results for Clinical Studies: Therapy/Broad
5 of 166 results sorted by: Most RecentSee all results in PubMed (166)
[Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study].
Zhongguo Dang Dai Er Ke Za Zhi. 2023. PMID: 37073846 Free PMC article. Chinese.
Biotinidase deficiency: What have we learned in forty years?
Mol Genet Metab. 2023. PMID: 37027963 Free article.
Neuroimaging Features of Biotinidase Deficiency.
AJNR Am J Neuroradiol. 2023. PMID: 36759144
Revisiting the administration of biotin to children with biotin-responsive disorders.
Mol Genet Metab. 2022. PMID: 35843775
Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 35576117 Free PMC article. English.