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

[1]  B. Wolf,et al.  Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency. , 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[2]  M. Sprengers,et al.  Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰. , 2019, Multiple sclerosis and related disorders.

[3]  B. Wolf.  Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. , 2019, Multiple sclerosis and related disorders.

[4]  A. Imbard,et al.  Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

[5]  B. Wolf.  Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening , 2016, Genetics in Medicine.

[6]  B. Wolf,et al.  Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. , 2017, JIMD reports.

[7]  B. Wolf.  Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. , 2015, Molecular genetics and metabolism.

[8]  K. Pindolia,et al.  Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood , 2015, Multiple sclerosis.

[9]  B. Wolf,et al.  Disorders of Biotin Metabolism , 2015 .

[10]  D. Crockett,et al.  The Biotinidase Gene Variants Registry: A Paradigm Public Database , 2013, G3: Genes, Genomes, Genetics.

[11]  B. Wolf.  The neurology of biotinidase deficiency. , 2011, Molecular Genetics and Metabolism.

[12]  B. Wolf.  Worldwide survey of neonatal screening for biotinidase deficiency , 1991, Journal of Inherited Metabolic Disease.

[13]  W. Nance,et al.  Neonatal screening for biotinidase deficiency: An update , 1986, Journal of Inherited Metabolic Disease.

[14]  T. Suormala,et al.  Delayed-onset profound biotinidase deficiency. , 1998, The Journal of pediatrics.

[15]  B. Wolf,et al.  Biotinidase Deficiency a , 1985, Advances in pediatrics.