Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".
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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.Differential gene expression during early development in brains of wildtype and biotinidase-deficient miceClinical utility gene card for: Biotinidase deficiency-update 2015.Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.Developmental window of sensorineural deafness in biotinidase-deficient mice.First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.Triazole biotin: a tight-binding biotinidase-resistant conjugate.Advances in pharmacotherapeutic management of common skin diseases in neonates and infants.Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.Inherited metabolic disorders in Turkish patients with autism spectrum disorders.A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.Biochemical Hyperthyroidism in a Newborn Baby Caused by Assay Interaction from Biotin Intake.Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report.Vitamin-responsive epileptic encephalopathies in children.First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.Defective BTD causes biotidinase deficiencyIrreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening."Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.
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Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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name
Biotinidase deficiency: "if yo ...... ase, this is the one to have".
@en
Biotinidase deficiency: "if yo ...... ase, this is the one to have".
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type
label
Biotinidase deficiency: "if yo ...... ase, this is the one to have".
@en
Biotinidase deficiency: "if yo ...... ase, this is the one to have".
@nl
prefLabel
Biotinidase deficiency: "if yo ...... ase, this is the one to have".
@en
Biotinidase deficiency: "if yo ...... ase, this is the one to have".
@nl
P2860
P356
P1433
P1476
Biotinidase deficiency: "if yo ...... ase, this is the one to have".
@en
P2093
Barry Wolf
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P2888
P304
P356
10.1038/GIM.2011.6
P407
P577
2012-01-05T00:00:00Z