مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

NEUROLOGICAL AND VASCULAR MANIFESTATIONS OF ETHYLMALONIC ENCEPHALOPATHY

Pages

  57-60

Abstract

 ObjectiveETHYLMALONIC ENCEPHALOPATHY (EE) is a severe mitochondrial disease ofearly infancy clinically characterized by a combination of developmentaldelay, progressive pyramidal signs, and vascular lesions including petechialpurpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea.Biochemical hallmarks of the disease are persistently high level of lactate, and C4–C5-acylcarnitines in blood, markedly elevated urinary excretion ofmethylsuccinic and ethylmalonic (EMA) acids. Here we report two patientswith EE as a 16-months-old male infant and a 2-yr-old boy referred toPediatric Neurology Clinic in Children’s Medical Center, Tehran-Iran that inone patient genetic analysis revealed a homozygous mutation of the ETHE1gene in favor of ethylmalonic academia.

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    APA: Copy

    TAVASOLI, ALI REZA, ROSTAMI, PARASTOO, ASHRAFI, MAHMOUD REZA, & KARIMZADEH, PARVANEH. (2017). NEUROLOGICAL AND VASCULAR MANIFESTATIONS OF ETHYLMALONIC ENCEPHALOPATHY. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 11(2), 57-60. SID. https://sid.ir/paper/303534/en

    Vancouver: Copy

    TAVASOLI ALI REZA, ROSTAMI PARASTOO, ASHRAFI MAHMOUD REZA, KARIMZADEH PARVANEH. NEUROLOGICAL AND VASCULAR MANIFESTATIONS OF ETHYLMALONIC ENCEPHALOPATHY. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2017;11(2):57-60. Available from: https://sid.ir/paper/303534/en

    IEEE: Copy

    ALI REZA TAVASOLI, PARASTOO ROSTAMI, MAHMOUD REZA ASHRAFI, and PARVANEH KARIMZADEH, “NEUROLOGICAL AND VASCULAR MANIFESTATIONS OF ETHYLMALONIC ENCEPHALOPATHY,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 11, no. 2, pp. 57–60, 2017, [Online]. Available: https://sid.ir/paper/303534/en

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