Detalhe da pesquisa
1.
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Mol Genet Metab
; 142(2): 108493, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772327
2.
Separation and quantification of the urinary enantiomers of 2-hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D- and L-2-hydroxyglutaric aciduria.
J Sep Sci
; 46(16): e2300145, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269210
3.
Urinary neopterin and biopterin indicate that inflammation has a role in autism spectrum disorder.
Metab Brain Dis
; 38(8): 2645-2651, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37688715
4.
Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation.
J Paediatr Child Health
; 59(1): 41-46, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36173142
5.
Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients.
Pediatr Res
; 92(2): 474-479, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628487
6.
Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy.
Neurol Sci
; 43(3): 2051-2058, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427791
7.
Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome.
Pediatr Int
; 64(1): e14938, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329521
8.
Altered immune response in organic acidemia.
Pediatr Int
; 64(1): e15082, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861062
9.
The Impact of Telemedicine for Monitoring and Treatment of Phenylketonuria Patients on Metabolic Outcome During Coronavirus Disease-19 Outbreak.
Telemed J E Health
; 28(2): 258-265, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33719565
10.
Evaluation of plasma carnitine status in patients diagnosed with juvenile idiopathic arthritis.
Turk J Med Sci
; 52(3): 724-729, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36326333
11.
Reflex Decay Test Can Reveal Ear Involvement in Fabry Disease.
Ear Hear
; 42(5): 1351-1357, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33758156
12.
Telemedicine Applications in a Tertiary Pediatric Hospital in Turkey During COVID-19 Pandemic.
Telemed J E Health
; 27(10): 1180-1187, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33301373
13.
Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria.
J Sep Sci
; 43(7): 1365-1371, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31958360
14.
Mercury intoxication resembling pediatric rheumatic diseases: case series and literature review.
Rheumatol Int
; 40(8): 1333-1342, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342181
15.
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.
Metab Brain Dis
; 34(1): 283-288, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30499066
16.
Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease.
Int Ophthalmol
; 39(11): 2545-2552, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977024
17.
Coagulation Disturbances in Patients with Argininemia.
Acta Haematol
; 140(4): 221-225, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30355940
18.
Evaluation of dynamic thiol/disulphide homeostasis as a novel indicator of oxidative stress in maple syrup urine disease patients under treatment.
Metab Brain Dis
; 32(1): 179-184, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27535382
19.
Hereditary Tyrosinemia Type 1 in Turkey.
Adv Exp Med Biol
; 959: 157-172, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28755194
20.
Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.
Pediatr Int
; 58(8): 763-5, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27324188