Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature.

Almuqbil, Mohammed; AbuMelha, Ahlam; Albokhari, Daniah

Almuqbil, Mohammed; AbuMelha, Ahlam; Albokhari, Daniah.

Afiliación

Almuqbil M; College of Medicine King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) Riyadh Saudi Arabia.
AbuMelha A; Division of Pediatric Neurology, King Abdullah Specialist Children's Hospital (KASCH) National Guard Health Affairs (NGHA) Riyadh Saudi Arabia.
Albokhari D; King Abdullah International Medical Research Center (KAIMRC) Ministry of National Guard Riyadh Saudi Arabia.

Clin Case Rep ; 10(10): e6307, 2022 Oct.

Article en En | MEDLINE | ID: mdl-36254151

Palabras clave

CSPSD; Cataracts; FAR1related syndrome; Spastic paraparesis; seizures; speech delay

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Case Rep Año: 2022 Tipo del documento: Article

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