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Last Updated: 10/31/2025
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Found 633 publications
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.
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.
Journal: Metabolites
Published: August 06, 2025
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.
Journal: Postgraduate medicine
Published: May 10, 2025
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Journal: International journal of neonatal screening
Published: April 20, 2025
Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: April 13, 2025
Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.
Journal: Neuro-ophthalmology (Aeolus Press)
Published: April 07, 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
Hepatoerythropoietic Porphyria with Coexisting BTD And CNGB1 Genetic Mutations: A First Case Report.
Hepatoerythropoietic Porphyria with Coexisting BTD And CNGB1 Genetic Mutations: A First Case Report.
Journal: European journal of case reports in internal medicine
Published: February 11, 2025
Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.
Journal: American journal of medical genetics. Part A
Published: February 10, 2025
Last Updated: 10/31/2025