Associated Papers
ProteoCast: a web server to predict, validate, and interpret missense variant effects.
Abakarova M et al.
Journal of Molecular Biology, 2026
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.
Manoy S et al.
Jimd Reports, 2026
Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.
Ren Y et al.
Metabolism Open, 2025
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Quinonez SC et al.
Jimd Reports, 2017
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.
Slavin TP et al.
Jimd Reports, 2014
Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.
Esaki S et al.
European Journal of Human Genetics : Ejhg, 2012
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
Mayende L et al.
Journal of Molecular Medicine (berlin, Germany), 2012
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Bailey LM et al.
Human Mutation, 2008
Mutations in the holocarboxylase synthetase gene HLCS.
Suzuki Y et al.
Human Mutation, 2005
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
Wilson CJ et al.
The Journal of Pediatrics, 2005
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
Morrone A et al.
American Journal of Medical Genetics, 2002
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Sakamoto O et al.
Pediatric Research, 1999
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Dupuis L et al.
Human Molecular Genetics, 1996
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