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Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children.
Pavuluri, Harini; F, Alfiya; Menon, Ramshekhar N; Nair, Sruthi S; Sundaram, Soumya.
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  • Pavuluri H; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
  • F A; R Madhavan Nayar Center for Comprehensive Epilepsy Care, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
  • Menon RN; R Madhavan Nayar Center for Comprehensive Epilepsy Care, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
  • Nair SS; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
  • Sundaram S; Pediatric Neurology and Neurodevelopmental Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, 695011, India. ssdr.soumya@gmail.com.
Indian J Pediatr ; 89(5): 519, 2022 05.
Article en En | MEDLINE | ID: mdl-35132535
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Piruvato Deshidrogenasa (Lipoamida) Idioma: En Revista: Indian J Pediatr Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Piruvato Deshidrogenasa (Lipoamida) Idioma: En Revista: Indian J Pediatr Año: 2022 Tipo del documento: Article