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Last Updated: 03/06/2025
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Found 160 publications
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
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
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.
Journal: Orphanet journal of rare diseases
Published: September 27, 2022
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.
Journal: Molecular genetics and metabolism reports
Published: August 09, 2022
Successful treatment with secukinumab of psoriasis-like dermatitis in a patient with holocarboxylase synthetase deficiency.
Journal: The Journal of dermatology
Published: May 20, 2022
Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: May 16, 2022
Revisiting the administration of biotin to children with biotin-responsive disorders.
Journal: Molecular genetics and metabolism
Published: May 09, 2022
Last Updated: 03/06/2025