Add to ORKGBiotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we starte
To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency ...
To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unex...
Ohtahara syndrome is a rare epileptic encephalopathy in infants; the underlying etiology is generall...
<p>The specific features of epilepsy are analyzed in three siblings with biotinidase deficiency. The...
Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive tra...
Objective Biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal re...
Biotinidase deficiency is an autosomal recessive metabolic disease that causes biotin deficiency. Th...
Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinida...
Authors from La Jolla, USA and Florence, Italy report the case of a boy who was first admitted to ho...
Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, tr...
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurolog...
We report the case of a child with partial biotinidase deficiency and autistic developmental disorde...
Four children with biotinidase deficiency were identified during the first year of a neonatal screen...
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We ...
Two infants with manifestations of biotinidase deficiency presenting at age 3 weeks and 2 weeks are ...
To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency ...
To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unex...
Ohtahara syndrome is a rare epileptic encephalopathy in infants; the underlying etiology is generall...
<p>The specific features of epilepsy are analyzed in three siblings with biotinidase deficiency. The...
Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive tra...
Objective Biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal re...
Biotinidase deficiency is an autosomal recessive metabolic disease that causes biotin deficiency. Th...
Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinida...
Authors from La Jolla, USA and Florence, Italy report the case of a boy who was first admitted to ho...
Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, tr...
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurolog...
We report the case of a child with partial biotinidase deficiency and autistic developmental disorde...
Four children with biotinidase deficiency were identified during the first year of a neonatal screen...
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We ...
Two infants with manifestations of biotinidase deficiency presenting at age 3 weeks and 2 weeks are ...
To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency ...
To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unex...
Ohtahara syndrome is a rare epileptic encephalopathy in infants; the underlying etiology is generall...