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

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

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

Biotin Deficiency Alters the Expression Profile of Colonic microRNAs: Possible Contribution to the Alterations in Expression of Proteins Involved in the Maintenance of Colonic Physiology and Inflammation.

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

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

Screening for Biotinidase deficiency in children with spinal cord demyelination.

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

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

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

Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.

Evaluation of readability and understandability of biotinidase deficiency information online.

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

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

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

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.

Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.

Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report.

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.

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

Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.

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

Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.

Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.

Developmental outcomes of children with biotinidase deficiency and the psychological state of their parents.

Optimizing Biotinidase Activity Assays: Insights From Clinical and Laboratory Evaluation From a Low-Middle Income Country.

Hepatoerythropoietic Porphyria with Coexisting BTD And CNGB1 Genetic Mutations: A First Case Report.

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital.

Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.

Feasibility of clinical newborn metabolic screening in a high-volume maternity center in Nepal.

Biotinidase deficiency-masquerade of primary immunodeficiency disease in neonate.

Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom.

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.

Optimising 3D printed medications for rare diseases: In-line mass uniformity testing in direct powder extrusion 3D printing.

Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.

A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.

Urine organic acid metabolomic profiling by gas chromatography mass spectrometry: Assessment of solvent extract evaporation parameters on the recovery of key diagnostic metabolites.

Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.

Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency.

[Epilepsy and inborn errors of metabolism].

Molecular Mechanisms of Biotin in Modulating Inflammatory Diseases.

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.

Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population.

Case report of biotinidase deficiency in a 16-month-old child with emphasis on skin manifestations.

Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder.

Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene- an Unusual Presentation of Biotinidase Deficiency.

Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.

Laryngeal stridor in children caused by reversible metabolic disease.

A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review.

Optic Neuropathy and Myelopathy in a Teenager With Biotinidase Deficiency.

Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.

Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results.

Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.

Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.

Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment.

Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!

Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection.

Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.

Effect of Biotin Starvation on Gene Expression in Komagataella phaffii Cells.

Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.

A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.

A retrospective study on newborn screening for metabolic disorders.

Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019.

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings.

Unusual stroke cause: bilaterally fornix infarction in a patient with biotinidase deficiency.

Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.

Tetraparesis as an initial manifestation of biotinidase deficiency: a case report.

Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.

Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.

The Enigma of Periorificial Desquamating Lesions in a Child.

Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition.

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.

[Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study].

Biotinidase deficiency: What have we learned in forty years?

Neuroimaging Features of Biotinidase Deficiency.

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.

Biotin Deficiency Induces Intestinal Dysbiosis Associated with an Inflammatory Bowel Disease-like Phenotype.

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.

A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities.

Cochlear Implantation in Biotinidase Enzyme Deficiency.

Effects of biotin deficiency on short term memory: The role of glutamate, glutamic acid, dopamine and protein kinase A.

Revisiting the administration of biotin to children with biotin-responsive disorders.

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.

Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study.

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study.

Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.

Biotinidase activity is affected by both seasonal temperature and filter collection cards.

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic.

Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.

Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families.

Recovery of enzyme activity in biotinidase deficient individuals during early childhood.

Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan.

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.

Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.

Serum biotin interference: A troublemaker in hormone immunoassays.

Brain MRI findings in an infant with congenital biotinidase deficiency.

100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.

Clinical, biochemical and genotypical characteristics in biotinidase deficiency.

Biotinidase deficiency: a boy with angular cheilitis and blepharitis.

BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.

Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.

Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.

Visual Loss in Biotinidase Deficiency.

Autism: Screening of inborn errors of metabolism and unexpected results.

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.

Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.

Biotinidase Deficiency Presenting as Recurrent Laryngeal Stridor.

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.

Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution.

Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.

Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss.

High frequency of biotinidase deficiency in Italian population identified by newborn screening.

Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency.

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.

Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.

A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis.

Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.

Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon.

Biotinidase deficiency characterized by skin and hair findings.

Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontology.

Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.

Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.

Vitamin-Responsive Movement Disorders in Children.

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.

Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.

Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.

Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

A survey-based study of physician practices regarding biotin supplementation.

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.

The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.

Metabolomic Analysis of Liver from Dietary Biotin Deficient Mice.

[A case of brain liquefaction caused by biotinidase deficiency].

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.

Dietary biotin deficiency decreased growth performance and impaired the immune function of the head kidney, spleen and skin in on-growing grass carp (Ctenopharyngodon idella).

Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.

[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].

Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays.

Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.

Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.

Biotinidase deficiency in a newborn.

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.

Effect of BTD gene variants on in vitro biotinidase activity.

Biotin deficiency in hyperemesis gravidarum.

Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.

High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

Effect of perinatal biotin deficiency on auditory pathway of the Wistar-Albino rats.

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰.

Congenital biotinidase deficiency - MRI findings in two cases.

Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.

Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.

Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat.

Biotin in metabolism, gene expression, and human disease.

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.

Owl's Eye Sign in a Reversible Etiology of Spastic Quadriparesis.

Diaper Rash in an Infant with Seizures.

Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.

Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.

Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.

Are we missing patients with biotinidase deficiency in France?

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.

Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.

"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.

Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.

Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies.

Cost-Effectiveness Methods and Newborn Screening Assessment.

[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.

Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.

Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan.

Developmental window of sensorineural deafness in biotinidase-deficient mice.

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.

Biotinidase deficiency masquerading as multiple sclerosis?

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.