Spastic gait, intellectual disability and seizures due to a rare mutation causing hyperargininemia.

Bakirtzis, Christos; Smyrni, Nikoletta; Afrantou, Theodora; Boziki, Marina Kleopatra; Grigoriadis, Nikolaos

Bakirtzis, Christos; Smyrni, Nikoletta; Afrantou, Theodora; Boziki, Marina Kleopatra; Grigoriadis, Nikolaos.

Afiliación

Bakirtzis C; Second Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece. Electronic address: cbakirtzis@auth.gr.
Smyrni N; Second Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Afrantou T; Second Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Boziki MK; Second Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Grigoriadis N; Second Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Clin Neurol Neurosurg ; 208: 106895, 2021 Sep.

Article en En | MEDLINE | ID: mdl-34419780

Asunto(s)

Trastornos Neurológicos de la Marcha/genética; Hiperargininemia/genética; Discapacidad Intelectual/genética; Mutación; Convulsiones/genética; Arginina/sangre; Trastornos Neurológicos de la Marcha/sangre; Humanos; Hiperargininemia/sangre; Discapacidad Intelectual/sangre; Masculino; Convulsiones/sangre; Secuenciación del Exoma; Adulto Joven

Palabras clave

Arginine; Hyperargininemia; Intellectual disability; Seizures; Spasticity; Urea

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Convulsiones / Hiperargininemia / Trastornos Neurológicos de la Marcha / Discapacidad Intelectual / Mutación Límite: Adult / Humans / Male Idioma: En Revista: Clin Neurol Neurosurg Año: 2021 Tipo del documento: Article

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