Jaina Patel
Overview
Explore the profile of Jaina Patel including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
255
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0
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Recent Articles
1.
Junejo M, Wolfe I, Patel J, Duus E, Oyebanji O, Walker S
Br J Dermatol
. 2023 Jul;
189(4):490-492.
PMID: 37399250
No abstract available.
2.
Manokaran R, Patel J, Sharma S, Ochi A, Jain P
Neuropediatrics
. 2023 May;
54(5):356-358.
PMID: 37164316
No abstract available.
3.
Hewson S, Brunga L, Fernandez Ojeda M, Imhof E, Patel J, Zak M, et al.
Can J Neurol Sci
. 2017 Nov;
45(1):93-96.
PMID: 29144225
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of...
4.
Tran C, Patel J, Stacy H, Mamak E, Faghfoury H, Raiman J, et al.
Eur J Paediatr Neurol
. 2017 Mar;
21(4):600-609.
PMID: 28274546
Background: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-ALD. Method:...
5.
Al Teneiji A, Bruun T, Cordeiro D, Patel J, Inbar-Feigenberg M, Weiss S, et al.
Metab Brain Dis
. 2016 Nov;
32(2):443-451.
PMID: 27882480
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1). We developed a clinical severity score to compare phenotype with biochemical features, genotype...
6.
Patel J, Mercimek-Mahmutoglu S
Indian J Pediatr
. 2016 Jan;
83(10):1164-74.
PMID: 26821542
Epilepsy is one of the most common neurological disorders in childhood. Epilepsy associated with global developmental delay and cognitive dysfunction is defined as epileptic encephalopathy. Certain inherited metabolic disorders presenting...
7.
DesRoches C, Patel J, Wang P, Minassian B, Marshall C, Salomons G, et al.
Mol Genet Genomics
. 2015 May;
290(6):2163-71.
PMID: 26003046
Guanidinoacetate methyltransferase (GAMT) deficiency is a neurodegenerative disease. Although no symptomatic patients on treatment achieved normal neurodevelopment, three asymptomatic newborns were reported with normal neurodevelopmental outcome on neonatal treatment. GAMT...
8.
DesRoches C, Patel J, Wang P, Minassian B, Salomons G, Marshall C, et al.
Gene
. 2015 Apr;
565(2):187-91.
PMID: 25861866
Creatine transporter deficiency (CRTR-D) is an X-linked inherited disorder of creatine transport. All males and about 50% of females have intellectual disability or cognitive dysfunction. Creatine deficiency on brain proton...
9.
Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner E, et al.
Epilepsia
. 2015 Mar;
56(5):707-16.
PMID: 25818041
Objective: Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic....
10.
Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner E, Logan W, et al.
Orphanet J Rare Dis
. 2015 Mar;
10:12.
PMID: 25758715
Background: Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders. Methods: This retrospective cohort...