Brian J Shayota
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Explore the profile of Brian J Shayota including associated specialties, affiliations and a list of published articles.
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26
Citations
201
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Recent Articles
11.
Liu N, Xiao J, Gijavanekar C, Pappan K, Glinton K, Shayota B, et al.
JAMA Netw Open
. 2021 Jul;
4(7):e2114155.
PMID: 34251446
Importance: Recent advances in newborn screening (NBS) have improved the diagnosis of inborn errors of metabolism (IEMs); however, many potentially treatable IEMs are not included on NBS panels, nor are...
12.
Lim J, Shayota B, Lay E, Elsea S, Bekheirnia M, Tessier M, et al.
J Child Neurol
. 2021 Apr;
36(10):841-852.
PMID: 33900143
Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial...
13.
Gupta P, Shayota B, Desai A, Kiblawi F, Myridakis D, Messina J, et al.
Front Immunol
. 2020 Oct;
11:1929.
PMID: 33013846
We report the clinical course of the first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in the gene] to undergo prophylactic...
14.
Shayota B, Zhang C, Shypailo R, Mazzeu J, Carvalho C, Sutton V
Am J Med Genet A
. 2020 Sep;
182(11):2632-2640.
PMID: 32888393
Robinow syndrome (RS) is a genetically heterogeneous skeletal dysplasia with recent reports suggesting an osteosclerotic form of the disease. We endeavored to investigate the full spectrum of skeletal anomalies in...
15.
Shayota B, Donti T, Xiao J, Gijavanekar C, Kennedy A, Hubert L, et al.
Mol Genet Metab
. 2020 Aug;
131(1-2):147-154.
PMID: 32828637
Inborn errors of metabolism (IEM) involving the non-oxidative pentose phosphate pathway (PPP) include the two relatively rare conditions, transketolase deficiency and transaldolase deficiency, both of which can be difficult to...
16.
Kripps K, Nakayuenyongsuk W, Shayota B, Berquist W, Gomez-Ospina N, Esquivel C, et al.
Mol Genet Metab
. 2020 Mar;
130(1):58-64.
PMID: 32173240
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, skeletal myopathy, ophthalmoparesis, and ptosis. MNGIE stems from deficient thymidine phosphorylase activity (TP) leading...
17.
Pillai N, Stroup B, Poliner A, Rossetti L, Rawls B, Shayota B, et al.
Mol Genet Metab
. 2019 Nov;
128(4):431-443.
PMID: 31757659
Background: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period...
18.
Shayota B, Le N, Bekheirnia N, Rosenfeld J, Goldstein A, Moritz M, et al.
Mol Genet Genomic Med
. 2019 Oct;
7(12):e973.
PMID: 31568715
Background: The nuclear encoded gene RMND1 (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1-related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an...
19.
Pillai N, Yubero D, Shayota B, Oyarzabal A, Ghosh R, Sun Q, et al.
Am J Med Genet A
. 2019 Sep;
179(12):2459-2468.
PMID: 31520464
Hartnup disease is an autosomal recessive condition characterized by neutral aminoaciduria and behavioral problems. It is caused by a loss of B AT1, a neutral amino acid transporter in the...
20.
Shayota B, Soler-Alfonso C, Bekheirnia M, Mizerik E, Boyer S, Xiao R, et al.
Am J Med Genet A
. 2019 Mar;
179(5):803-807.
PMID: 30848071
Short chain enoyl-CoA hydratase (SCEH) deficiency leads to a severe form of autosomal recessive Leigh syndrome with inevitable neurological decline and early mortality. SCEH is most notably involved in valine...