Associated Papers
Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.
Zheng Z et al.
Orphanet Journal of Rare Diseases, 2025
[Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe Islands].
Poulsen SD et al.
Ugeskrift for Laeger, 2012
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
Lund AM et al.
Journal of Inherited Metabolic Disease, 2007
Mutations in the holocarboxylase synthetase gene HLCS.
Suzuki Y et al.
Human Mutation, 2005
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Santer R et al.
Molecular Genetics and Metabolism, 2003
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
Morrone A et al.
American Journal of Medical Genetics, 2002
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Yang X et al.
Human Genetics, 2001
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