Nur Arslan
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Explore the profile of Nur Arslan including associated specialties, affiliations and a list of published articles.
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Articles
91
Citations
663
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Recent Articles
1.
Senol H, Kisa P, Kulu B, Oren H, Arslan N, Yis U
Mol Syndromol
. 2025 Feb;
16(1):93-98.
PMID: 39911175
Background: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder characterized by aberrant triacylglycerol metabolism due to mutations in the () gene. Case Presentation: This report...
2.
Uslu S, Kabadayi G, Kisa P, Yuce Inel T, Arslan Z, Arslan N, et al.
Reumatol Clin (Engl Ed)
. 2024 Nov;
20(9):484-489.
PMID: 39528318
Objectives: Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical manifestations, which may overlap with systemic diseases...
3.
Zubarioglu T, Kiykim E, Kose E, Eminoglu F, Kisa P, Balci M, et al.
Mol Genet Metab
. 2024 May;
142(2):108493.
PMID: 38772327
Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation...
4.
Kisa P, Ozturk Hismi B, Kocabey M, Gulten Z, Huddam B, Ekinci S, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63552.
PMID: 38372211
The wide range of clinical symptoms observed in patients with Fabry disease (FD) often leads to delays in diagnosis and initiation of treatment. Delayed initiation of therapy may result in...
5.
Arslan N, Coker M, Gokcay G, Kiykim E, Onenli Mungan H, Ezgu F
Front Pediatr
. 2023 Jul;
11:1113422.
PMID: 37435168
This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best clinical practice in terms of recognition,...
6.
Kisa P, Guzel O, Arslan N, Demir K
Clin Endocrinol (Oxf)
. 2022 Dec;
98(3):332-341.
PMID: 36536479
Objective: Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Prevention and management of obesity, which represents the main cause of morbidity and mortality in these patients, is...
7.
Yilmaz B, Baruteau J, Arslan N, Aydin H, Barth M, Bozaci A, et al.
Life (Basel)
. 2022 Nov;
12(11).
PMID: 36362876
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the...
8.
Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
Kose E, Cagatay E, Yaras T, Kisa P, Guler S, Gulten Z, et al.
Turk J Med Sci
. 2022 Nov;
52(4):1075-1084.
PMID: 36326406
Background: Cholesterol ester storage disease (CESD) is one of the rare causes that should be kept in mind in the etiology of cirrhosis. Recent studies detected that significantly reduced lysosomal...
9.
Akyol S, Yilmaz S, Tufekci O, Arslan N, Oren H
J Paediatr Child Health
. 2022 Aug;
58(12):2300-2301.
PMID: 35938785
No abstract available.
10.
Kurul S, Oktay Y, Topf A, Szabo N, Gungor S, Yaramis A, et al.
Brain
. 2021 Nov;
145(4):1507-1518.
PMID: 34791078
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant...