Disease: Multiple carboxylase deficiency- late onset
- 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
- A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities
- A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity
- A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis
- A retrospective study on newborn screening for metabolic disorders
- A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis
- 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
- Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy
- Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection
- Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder
- Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center
- Autism: Screening of inborn errors of metabolism and unexpected results
- Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontology
- Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives
- Biotinidase activity is affected by both seasonal temperature and filter collection cards
- Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory
- Biotinidase Deficiency
- Biotinidase Deficiency
- Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood
- Biotinidase deficiency characterized by skin and hair findings
- Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder
- Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings
- Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
- Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder
- Biotinidase Deficiency Presenting as Recurrent Laryngeal Stridor
- Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity
- Biotinidase deficiency: a boy with angular cheilitis and blepharitis
- Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies
- Biotinidase deficiency: What have we learned in forty years?
- Brain MRI findings in an infant with congenital biotinidase deficiency
- BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
- Case report of biotinidase deficiency in a 16-month-old child with emphasis on skin manifestations
- Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
- Childhood-onset hereditary spastic paraplegia and its treatable mimics
- Clinical, biochemical and genotypical characteristics in biotinidase deficiency
- Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country
- Cochlear Implantation in Biotinidase Enzyme Deficiency
- Correction to: Biotinidase Deficiency Presenting as Recurrent Laryngeal Stridor
- Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking
- Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution
- Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study
- Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population
- Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening
- Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon
- Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study
- Effects of biotin deficiency on short term memory: The role of glutamate, glutamic acid, dopamine and protein kinase A
- Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan
- Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience
- Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
- Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019
- Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study
- Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
- Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency
- High frequency of biotinidase deficiency in Italian population identified by newborn screening
- High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy
- Holocarboxylase synthetase deficiency induced by <em>HLCS</em> gene mutations: a rare disease study
- Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study
- How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study
- Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia
- Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency
- Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment
- Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene- an Unusual Presentation of Biotinidase Deficiency
- Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder
- Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
- Laryngeal stridor in children caused by reversible metabolic disease
- Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene
- Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene
- Letter to the Editor with regards to the article: Biotinidase deficiency in a Newborn
- Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!
- Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme
- Molecular Mechanisms of Biotin in Modulating Inflammatory Diseases
- Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures
- Neuroimaging Features of Biotinidase Deficiency
- Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay
- Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
- Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment
- Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature
- Optic Neuropathy and Myelopathy in a Teenager With Biotinidase Deficiency
- Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population
- Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
- Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan
- Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic
- Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss
- Recovery of enzyme activity in biotinidase deficient individuals during early childhood
- Revisiting the administration of biotin to children with biotin-responsive disorders
- Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin
- Serum biotin interference: A troublemaker in hormone immunoassays
- Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy
- Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol
- Tetraparesis as an initial manifestation of biotinidase deficiency: a case report
- The Enigma of Periorificial Desquamating Lesions in a Child
- Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
- Unusual stroke cause: bilaterally fornix infarction in a patient with biotinidase deficiency
- Visual Loss in Biotinidase Deficiency
- Vitamin-Responsive Movement Disorders in Children
- Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the <em>BTD</em> Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families