There is increasing evidence that metabolic diseases involving the central nervous system may present with an adult onset and mimic degenerative or demy-elinating diseases.1 Another case is reported in this issue by Bottin et al. They describe the case of a 22-year-old man presenting with a subacute extensive myelopathy with bilateral optic neuropathy mimick-ing seronegative neuromyelitis optica. Metabolic evaluation revealed biotidinase deficiency, and treat-ment with high doses of biotin progressively improved the clinical condition. Very few cases of similar obser-vations have been previously reported in adolescents or children with biotinidase deficiency and, as stated by Bottin et al., it becomes increasingly important to include bioti...
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We ...
International audienceNo drug has been found to have any impact on progressive multiple sclerosis (M...
ObjectiveTo expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition a...
There is increasing evidence that metabolic diseases involving the central nervous system may presen...
Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy...
A patient with a newly recognised variant of biotinidase deficiency presented with acute loss of vis...
International audienceMultiple sclerosis (MS) is a common autoimmune disease of the central nervous ...
A 15-year-old boy suffered from progressive bilateral optic neuropathy of acute onset at the age of ...
We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-l...
Background: Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provok...
Biotinidase deficiency is an autosomal recessive disorder in which affected individuals are unable t...
Abdul-Aziz Hayati1, Wan-Hazabbah Wan-Hitam1, Min-Tet Cheong1, Rohaizan Yunus2, Ismail Shatriah11Depa...
Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, tr...
Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive tra...
<p>A 26-year-old male was admitted to our department, complaining of cognitive impairment, urine inc...
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We ...
International audienceNo drug has been found to have any impact on progressive multiple sclerosis (M...
ObjectiveTo expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition a...
There is increasing evidence that metabolic diseases involving the central nervous system may presen...
Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy...
A patient with a newly recognised variant of biotinidase deficiency presented with acute loss of vis...
International audienceMultiple sclerosis (MS) is a common autoimmune disease of the central nervous ...
A 15-year-old boy suffered from progressive bilateral optic neuropathy of acute onset at the age of ...
We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-l...
Background: Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provok...
Biotinidase deficiency is an autosomal recessive disorder in which affected individuals are unable t...
Abdul-Aziz Hayati1, Wan-Hazabbah Wan-Hitam1, Min-Tet Cheong1, Rohaizan Yunus2, Ismail Shatriah11Depa...
Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, tr...
Biotinidase deficiency is a rare metabolic disease that is transmitted as an autosomal recessive tra...
<p>A 26-year-old male was admitted to our department, complaining of cognitive impairment, urine inc...
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We ...
International audienceNo drug has been found to have any impact on progressive multiple sclerosis (M...
ObjectiveTo expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition a...