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Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency (HSD), an autosomal recessive biotin cycle disorder, is caused by holocarboxylase synthetase (HLCS) genetic variants, resulting in multiple carboxylase deficiency. Catabolic stress can induce metabolic crises in patients with HSD. Although pharmacological doses...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563324/ https://www.ncbi.nlm.nih.gov/pubmed/36245960 http://dx.doi.org/10.1016/j.ymgmr.2022.100923 |