Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency

Author:

Meguro Miyu,Wada Yoichi,Kisou Yurina,Sugawara Chihiro,Akimoto Yoshihiro,Kure Shigeo

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference21 articles.

1. Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA;Suzuki;Nat. Genet.,1994

2. Biotin in metabolism, gene expression, and human disease;León-Del-Río;J. Inherit. Metab. Dis.,2019

3. Disorders of biotin metabolism;Zempleni,2019

4. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency;Burri;Am. J. Hum. Genet.,1985

5. Holocarboxylase synthetase deficiency pre and post newborn screening;Donti;Mol. Genet. Metab. Rep.,2016

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