Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene- an Unusual Presentation of Biotinidase Deficiency.

Panigrahi, Baikuntha; Radhakrishnan, Divya M; Agarwal, Ayush; Rajan, Roopa; Garg, Divyani; Das, Animesh; Pandit, Awadh Kishor; Srivastava, Achal K

Panigrahi, Baikuntha; Radhakrishnan, Divya M; Agarwal, Ayush; Rajan, Roopa; Garg, Divyani; Das, Animesh; Pandit, Awadh Kishor; Srivastava, Achal K.

Afiliación

Panigrahi B; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Radhakrishnan DM; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Agarwal A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Rajan R; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Garg D; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Das A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Pandit AK; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Srivastava AK; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Mov Disord Clin Pract ; 2024 Jun 28.

Article en En | MEDLINE | ID: mdl-38943247

Palabras clave

BTD; Biotinidase deficiency; cognitive impairment; juvenile parkinsonism; leukoencephalopathy; levodopa responsive parkinsonism

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mov Disord Clin Pract Año: 2024 Tipo del documento: Article País de afiliación: India

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