Nadia Al Hashmi
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Explore the profile of Nadia Al Hashmi including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
65
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0
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Recent Articles
1.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti C, Aldeeri A, et al.
Res Sq
. 2024 Nov;
PMID: 39483874
Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role...
2.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti C, Aldeeri A, et al.
Acta Neuropathol Commun
. 2024 Oct;
12(1):171.
PMID: 39468638
Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role...
3.
Al Balushi A, Al Hinai M, Al Hosni A, Al Amrani F, Al Maimani A, Al Maki N, et al.
J Pediatr Genet
. 2024 Aug;
13(3):175-180.
PMID: 39086452
Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the gene. Here we present four Omani families with multiple...
4.
Al-Thihli K, Al Hashmi N, Al Balushi A, Al-Habsi A, Al-Ajmi E, Al-Jasmi F, et al.
JIMD Rep
. 2024 Jul;
65(4):226-232.
PMID: 38974611
Carbonic anhydrase VA (CA-VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients...
5.
Al-Hassnan Z, Al Hashmi N, Makhseed N, Ben Omran T, Al Jasmi F, Al Teneiji A
Orphanet J Rare Dis
. 2023 Nov;
18(1):365.
PMID: 37996946
No abstract available.
6.
Al Busaidi M, Mohamed F, Al-Ajmi E, Al Hashmi N, Al-Thihli K, Al Futaisi A, et al.
Orphanet J Rare Dis
. 2023 Nov;
18(1):344.
PMID: 37924129
Background: In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosomal recessive metabolic disease caused...
7.
Kumar V, Gautam V, Agarwal S, Pandey V, Goyal S, Nasa V, et al.
Pediatr Transplant
. 2023 Sep;
27(8):e14603.
PMID: 37658594
Background: Domino liver transplant (DLT) represents another type of liver donor to expand the donor pool. Recent reports of successful DLT in children with maple syrup urine disease (MSUD) show...
8.
Al Riyami M, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, et al.
Mol Genet Genomic Med
. 2023 May;
11(9):e2201.
PMID: 37204080
Background: Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (<3.5 ...
9.
Al-Hassnan Z, Al Hashmi N, Makhseed N, Ben Omran T, Al Jasmi F, Al Teneiji A
Orphanet J Rare Dis
. 2022 Oct;
17(1):388.
PMID: 36303251
Background: Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-glucosidase enzyme deficiency is...
10.
Bruwer Z, Al Ubaidani S, Al Kharusi K, Al Murshedi F, Al-Maawali A, Al Sayegh A, et al.
J Community Genet
. 2022 Feb;
13(3):303-311.
PMID: 35179721
Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene disorders within Islamic societies in the Middle East are limited. A few have examined the attitudes...