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Last Updated: 10/31/2025
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Found 165 publications
Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report.
Journal: Cureus
Published: August 16, 2025
Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.
Journal: Journal of inherited metabolic disease
Published: March 14, 2025
Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.
Journal: Metabolism open
Published: January 21, 2025
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.
Journal: JIMD reports
Published: January 06, 2025
Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.
Journal: International journal of molecular sciences
Published: May 15, 2024
Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.
Journal: Molecular genetics & genomic medicine
Published: April 04, 2024
Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: February 27, 2024
Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.
Journal: Orphanet journal of rare diseases
Published: February 01, 2024
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.
Journal: International journal of neonatal screening
Published: December 23, 2023
Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.
Journal: Molecular genetics and metabolism reports
Published: December 20, 2023
Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: April 19, 2023
Last Updated: 10/31/2025