Fuad Al Mutairi
Overview
Explore the profile of Fuad Al Mutairi including associated specialties, affiliations and a list of published articles.
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64
Citations
1151
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Recent Articles
1.
Al Mutairi F, Alkhalaf R, Khan A, Al Othaim A, Alfadhel M
Mol Genet Metab Rep
. 2024 Nov;
41:101153.
PMID: 39484073
Background: Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are frequently observed in newborn screening reports, necessitating consideration of various diseases in the differential diagnosis. This study aimed...
2.
Alshamlani L, Alsulaim D, Alabbad R, Alhoshan A, Alkhoder J, Alsaleh N, et al.
Appl Clin Genet
. 2024 Oct;
17:151-158.
PMID: 39377010
Background: Consanguinity, or the practice of marrying close relatives, is a common cultural tradition in Saudi Arabia, with rates among the highest in the world. This practice has significant implications...
3.
Al Mutairi F, Joueidi F, Alshalan M, Aloyouni E, Ballow M, Aldrees M, et al.
Heliyon
. 2024 Aug;
10(15):e35361.
PMID: 39166056
Background: HMGXB4 (additionally known as HMG2L1) is a non-histone DNA-binding protein that contains a single HMG-box domain. HMGXB4 was originally described in Xenopus where it was seen to negatively regulate...
4.
Saleh M, Hamhom A, Al-Otaibi A, Alghamdi M, Housawi Y, Aljadhai Y, et al.
Pediatr Neurol
. 2024 Apr;
155:149-155.
PMID: 38653183
Background: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in...
5.
Aldrian D, Waldner B, Vogel G, El-Gharbawy A, McKiernan P, Vockley J, et al.
J Inherit Metab Dis
. 2024 Feb;
47(2):220-229.
PMID: 38375550
Carbamoyl phosphate synthetase 1 (CPS1) and ornithine transcarbamylase (OTC) deficiencies are rare urea cycle disorders, which can lead to life-threatening hyperammonemia. Liver transplantation (LT) provides a cure and offers an...
6.
Almannai M, Marafi D, Zaki M, Maroofian R, Efthymiou S, Saadi N, et al.
Clin Genet
. 2024 Feb;
105(6):620-629.
PMID: 38356149
PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals....
7.
Danish E, Alhashem A, Aljehani R, Aljawi A, Aldarwish M, Al Mutairi F, et al.
Saudi J Ophthalmol
. 2023 Dec;
37(4):301-306.
PMID: 38155673
Purpose: Achromatopsia is a rare stationary retinal disorder that primarily affects the cone photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, reduced visual acuity (VA), and color blindness. Multiple genes...
8.
Salpietro V, Maroofian R, Zaki M, Wangen J, Ciolfi A, Barresi S, et al.
Am J Hum Genet
. 2023 Dec;
111(1):200-210.
PMID: 38118446
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause...
9.
Shamseldin H, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, et al.
Hum Genet
. 2023 Sep;
142(10):1491-1498.
PMID: 37656279
DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosomal recessive inborn error of immunity characterized by pediatric brainstem viral-induced encephalitis...
10.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki M, Ferla M, et al.
Brain
. 2023 Jul;
146(12):5031-5043.
PMID: 37517035
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental...