Multiple Carboxylase Deficiency Latest Advances

A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.

Journal: Genetic testing and molecular biomarkers

Published: July 17, 2026

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Journal: Acta medica Philippina

Published: July 01, 2026

Acute Motor Axonal Neuropathy in Biotinidase Deficiency Complicated by Dietary Restriction.

Journal: Journal of clinical neuromuscular disease

Published: June 02, 2026

Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.

Journal: International journal of molecular sciences

Published: May 28, 2026

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

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review.

Journal: Clinical case reports

Published: January 31, 2026

Auditory function at birth in infants with biotinidase deficiency.

Journal: International journal of pediatric otorhinolaryngology

Published: January 28, 2026

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.

Journal: Frontiers in pediatrics

Published: January 15, 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

Multiple Carboxylase Deficiency Latest Advances

Find the Latest Research About Multiple Carboxylase Deficiency

A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.

A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.

Acute Motor Axonal Neuropathy in Biotinidase Deficiency Complicated by Dietary Restriction.

Acute Motor Axonal Neuropathy in Biotinidase Deficiency Complicated by Dietary Restriction.

Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.

Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.

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.

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review.

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review.

Auditory function at birth in infants with biotinidase deficiency.

Auditory function at birth in infants with biotinidase deficiency.

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.

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.