Detalhe da pesquisa
1.
Evaluating renin and aldosterone levels in children with organic acidemia-therapeutic experience with fludrocortisone.
Eur J Pediatr
; 182(12): 5447-5453, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37773296
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.
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
4.
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
5.
Altered immune response in organic acidemia.
Pediatr Int
; 64(1): e15082, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861062
6.
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
7.
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
8.
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
9.
Coagulation Disturbances in Patients with Argininemia.
Acta Haematol
; 140(4): 221-225, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30355940
10.
Hereditary Tyrosinemia Type 1 in Turkey.
Adv Exp Med Biol
; 959: 157-172, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28755194
11.
Differences in the gut microbiota of healthy children and those with type 1 diabetes.
Pediatr Int
; 56(3): 336-43, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24475780
12.
Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.
Nutrients
; 16(10)2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38794682
13.
Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease
Balkan Med J
; 41(2): 113-120, 2024 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247273
14.
Pteridine and tryptophan pathways in children with type 1 diabetes: Isoxanthopterin as an indicator of endothelial dysfunction.
J Pharm Biomed Anal
; 243: 116072, 2024 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38437786
15.
Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.
J Biomol Struct Dyn
; 40(19): 9018-9029, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970801
16.
Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study.
J Pediatr Endocrinol Metab
; 34(1): 103-107, 2021 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185576
17.
Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus.
Arch Rheumatol
; 35(1): 7-12, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32637914
18.
Newborn Screening: From the Past to the Future.
Turk Arch Pediatr
; 57(5): 473-475, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36062438
19.
Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever.
Arch Rheumatol
; 31(2): 133-138, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29900937