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Research article

First published 2020-9

Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais,Brazil

Nara de Oliveira Carvalho, José Nélio Januário, Gilsimary Lessa Pereira Felix [...]

Journal of Medical Screening

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Case report

First published 2020-04-10

Biotinidase deficiency in a newborn

S. El Moussaoui, F. Bennaoui, N. El Idrissi Slitine [...]

Journal of Neonatal-Perinatal Medicine

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Other

First published 2011-4

Ohtahara Syndrome With Biotinidase Deficiency

Pratibha Singhi, Munni Ray

Journal of Child Neurology

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Other

First published 2008-09

Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease

Aziza K. Chedrawi, Ayman Ali, Zuhair N. Al Hassnan [...]

Journal of Child Neurology

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Case report

First published 2015-10

Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood

Laure Bottin, Sabine Prud’hon, Stéphanie Guey [...]

Multiple Sclerosis Journal

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Other

First published 2007-02

Spinal Cord Demyelination Associated with Biotinidase Deficiency in 3 Chinese Patients

Yanling Yang, Chaoyang Li, Zhaoyue Qi [...]

Journal of Child Neurology

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Research article

First published 2014-1

Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum

Deepa Krishnakumar, Anna Maw, Richard Brown [...]

Journal of Child Neurology

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Research article

First published 2026

Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction

Soumya Jyoti Raha, Arushi Gahlot Saini, Savita Verma Attri [...]

Journal of Child Neurology

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Case report

First published 2017-1

Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease

Barbara Girard, Chrystèle Bonnemains, Emmanuelle Schmitt [...]

Multiple Sclerosis Journal

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Research article

First published 1991-02

Screening for Biotinidase Deficiency in Children with Unexplained Neurologic or Developmental Abnormalities

Steven J. Sutherland, Richard D. Olsen, Virginia Michels [...]

Clinical Pediatrics

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