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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas M

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause refractory epilepsy/status epilepticus, developmental delay and progressive microcephaly (P1.306)
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause refractory epilepsy/status epilepticus, developmental delay and progressive microcephaly (P1.306)
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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause refractory epilepsy/status epilepticus, developmental delay and progressive microcephaly (P1.306)

Al Ghamdi, Abdul Aziz ; Al Shahwan, Saad ; Alshibani, Faisal ; Melaiki, Brahim

Neurology, 2018-04, Vol.90 (15_supplement) [Periódico revisado por pares]

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Detrimental effect of antiepileptic drugs dose in pediatric children with epilepsy in Saudi Arabia: A prospective cohort study
Detrimental effect of antiepileptic drugs dose in pediatric children with epilepsy in Saudi Arabia: A prospective cohort study
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Detrimental effect of antiepileptic drugs dose in pediatric children with epilepsy in Saudi Arabia: A prospective cohort study

Alotaibi, Badriyah S. ; Alodhayani, Abdulaziz A. ; Alwan, Ashraf ; Alotaibi, Khalid Nijr ; Melaiki, Brahim Tabarki ; Almadhi, Aljawharah Mohammad ; Alfares, Lulwah Haitham ; Alalkami, Nahlah Ahmed

Medicine (Baltimore), 2021-07, Vol.100 (26), p.e26478-e26478 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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