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Last Updated: 02/24/2026

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Found 638 publications

Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination.

Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination.

Journal: BMJ case reports
Published: December 23, 2025

A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf.

A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf.

Journal: International journal of neonatal screening
Published: November 13, 2025

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.

Journal: International journal of neonatal screening
Published: October 27, 2025

Screening for Biotinidase deficiency in children with spinal cord demyelination.

Screening for Biotinidase deficiency in children with spinal cord demyelination.

Journal: Multiple sclerosis and related disorders
Published: October 25, 2025

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Journal: Neuropediatrics
Published: October 06, 2025

Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report.

Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report.

Journal: Cureus
Published: August 16, 2025

Enzymatic Evolution and Longitudinal Recovery in Biotinidase Deficiency: Genotypic and Clinical Insights from the Follow-Up of a Newborn-Screened Cohort in Emilia-Romagna, Italy.

Enzymatic Evolution and Longitudinal Recovery in Biotinidase Deficiency: Genotypic and Clinical Insights from the Follow-Up of a Newborn-Screened Cohort in Emilia-Romagna, Italy.

Journal: Metabolites
Published: August 06, 2025

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Journal: JIMD reports
Published: June 28, 2025

Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.

Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.

Journal: Biomedicines
Published: May 21, 2025

Newborn screening programs promote vaccine acceptance among parents in Turkey: a cross-sectional study.

Newborn screening programs promote vaccine acceptance among parents in Turkey: a cross-sectional study.

Journal: Postgraduate medicine
Published: May 10, 2025

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Journal: International journal of neonatal screening
Published: April 20, 2025

Biotinidase deficiency presenting with status epilepticus and cerebellar infarction in an infant: a case report.

Biotinidase deficiency presenting with status epilepticus and cerebellar infarction in an infant: a case report.

Journal: Annals of medicine and surgery (2012)
Published: April 19, 2025
Showing 1-12 of 638

Last Updated: 02/24/2026