Multiple Carboxylase Deficiency Latest Advances

Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction.

Journal: Journal of child neurology

Published: March 18, 2026

Correction: Ortolano et al. 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. Metabolites 2025, 15, 605.

Journal: Metabolites

Published: February 26, 2026

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

Journal: Journal of tropical pediatrics

Published: February 01, 2026

Auditory function at birth in infants with biotinidase deficiency.

Journal: International journal of pediatric otorhinolaryngology

Published: January 28, 2026

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.

Journal: International journal of neonatal screening

Published: November 13, 2025

Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency.

Journal: International journal of molecular sciences

Published: November 12, 2025

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.

Journal: Multiple sclerosis and related disorders

Published: October 25, 2025

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

Journal: Neuropediatrics

Published: October 06, 2025

The impact of hematocrit, punch location, and cellular interference on neonatal screening for biotinidase deficiency.

Journal: The Turkish journal of pediatrics

Published: September 08, 2025

Assessment of biotinidase activity changes over time in biotinidase deficient patients.

Journal: Frontiers in pediatrics

Published: August 27, 2025

Multiple Carboxylase Deficiency Latest Advances

Find the Latest Research About Multiple Carboxylase Deficiency

Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction.

Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction.

Correction: Ortolano et al. 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. Metabolites 2025, 15, 605.

Correction: Ortolano et al. 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. Metabolites 2025, 15, 605.

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

Auditory function at birth in infants with biotinidase deficiency.

Auditory function at birth in infants with biotinidase deficiency.

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.

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.

Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency.

Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency.

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.

Screening for Biotinidase deficiency in children with spinal cord demyelination.

Screening for Biotinidase deficiency in children with spinal cord demyelination.

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

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

The impact of hematocrit, punch location, and cellular interference on neonatal screening for biotinidase deficiency.

The impact of hematocrit, punch location, and cellular interference on neonatal screening for biotinidase deficiency.

Assessment of biotinidase activity changes over time in biotinidase deficient patients.

Assessment of biotinidase activity changes over time in biotinidase deficient patients.