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Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.
Ling S, Qiu W, Zhang H, Liang L, Lu D, Chen T, Zhan X, Wang Y, Gu X, Han L. Ling S, et al. Orphanet J Rare Dis. 2023 Mar 8;18(1):48. doi: 10.1186/s13023-023-02656-y. Orphanet J Rare Dis. 2023. PMID: 36890565 Free PMC article.
CONCLUSIONS: Our findings expanded the spectrum of phenotypes and genotypes for HLCS deficiency in Chinese populations and suggested that with timely biotin therapy, patients with HLCS deficiency showed low mortality and optimistic prognosis. Newborn screening is crucial f …
CONCLUSIONS: Our findings expanded the spectrum of phenotypes and genotypes for HLCS deficiency in Chinese populations and suggested that wi …
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Xiong Z, Zhang G, Luo X, Zhang N, Zheng J. Xiong Z, et al. Medicine (Baltimore). 2020 May;99(18):e19964. doi: 10.1097/MD.0000000000019964. Medicine (Baltimore). 2020. PMID: 32358368 Free PMC article.
INTERVENTIONS: Prompt oral treatment with biotin dramatically corrected the metabolic imbalances of the 2 patients, and continued oral biotin therapy was essential to the improvement of their prognoses. OUTCOMES: Their metabolic disorders were corrected within 48 hours. .. …
INTERVENTIONS: Prompt oral treatment with biotin dramatically corrected the metabolic imbalances of the 2 patients, and continued oral bioti …
Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review.
Wu HR, Chen KJ, Hsiao HP, Chao MC. Wu HR, et al. J Pediatr Endocrinol Metab. 2020 Nov 26;33(11):1481-1486. doi: 10.1515/jpem-2020-0106. J Pediatr Endocrinol Metab. 2020. PMID: 32841162 Review.
Once the diagnosis is made, most of the patients with HCSD have good prognosis and normal life expectancy with biotin treatment....
Once the diagnosis is made, most of the patients with HCSD have good prognosis and normal life expectancy with biotin treatment....
Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
Zheng Z, Yuan G, Zheng M, Lin Y, Zheng F, Jiang M, Zhu L, Fu Q. Zheng Z, et al. BMC Med Genet. 2020 Jul 29;21(1):155. doi: 10.1186/s12881-020-01080-4. BMC Med Genet. 2020. PMID: 32727382 Free PMC article.
A novel frameshift mutation c.1006_1007delGA (p.Glu336Thrfs*15) in exon 6 of the HLCS gene is predicted to be deleterious through PROVEAN and MutationTaster. A novel heterozygous mutation, c.638_642delAACAC (p.His213Profs*4), in the BTD gene is also identified. ...
A novel frameshift mutation c.1006_1007delGA (p.Glu336Thrfs*15) in exon 6 of the HLCS gene is predicted to be deleterious through PRO …
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
Mayende L, Swift RD, Bailey LM, Soares da Costa TP, Wallace JC, Booker GW, Polyak SW. Mayende L, et al. J Mol Med (Berl). 2012 Jan;90(1):81-8. doi: 10.1007/s00109-011-0811-x. Epub 2011 Sep 6. J Mol Med (Berl). 2012. PMID: 21894551
However, some patients respond poorly to biotin therapy and have an extremely poor long-term prognosis. Whilst a small number of mutations in the HLCS gene have been implicated, the molecular mechanisms that lead to the biotin-unresponsive phenotype are not understood. ...
However, some patients respond poorly to biotin therapy and have an extremely poor long-term prognosis. Whilst a small number of muta …
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Bailey LM, Ivanov RA, Jitrapakdee S, Wilson CJ, Wallace JC, Polyak SW. Bailey LM, et al. Hum Mutat. 2008 Jun;29(6):E47-57. doi: 10.1002/humu.20766. Hum Mutat. 2008. PMID: 18429047
Patients who display incomplete responsiveness to this therapy have a poor long-term prognosis. Here we investigated cell lines from two such HLCS-deficient patients homozygous for the c.647T>G p.L216R allele. ...
Patients who display incomplete responsiveness to this therapy have a poor long-term prognosis. Here we investigated cell lines from …
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E. Morrone A, et al. Am J Med Genet. 2002 Jul 22;111(1):10-8. doi: 10.1002/ajmg.10532. Am J Med Genet. 2002. PMID: 12124727
Using the newly available human genomic sequence, we report the map of HLCS genomic structure and the predicted exon/intron boundaries. Moreover, the molecular studies of four patients (two Italians, one Iranian, and one Australian) affected by HLCS deficiency are here rep …
Using the newly available human genomic sequence, we report the map of HLCS genomic structure and the predicted exon/intron boundarie …
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Suormala T, Baumgartner ER, Gibson KM, Narisawa K. Sakamoto O, et al. Pediatr Res. 1999 Dec;46(6):671-6. doi: 10.1203/00006450-199912000-00004. Pediatr Res. 1999. PMID: 10590022
These observations suggest that the reduction of Vmax is an essential factor for pathophysiology and prognosis of HCS deficiency under treatment with large amounts of biotin. ...
These observations suggest that the reduction of Vmax is an essential factor for pathophysiology and prognosis of HCS deficiency unde …
15 results