Detalhe da pesquisa
1.
Special low protein foods for phenylketonuria in Turkey: An examination of their nutritional composition compared to regular food.
Nutr Health
; : 2601060221146580, 2023 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36591892
2.
Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.
Pediatr Int
; 64(1): e15317, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331231
3.
A different perspective into clinical symptoms in CPT I deficiency.
Mol Genet Metab Rep
; 38: 101032, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38090675
4.
Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis.
J Pediatr Endocrinol Metab
; 36(2): 167-173, 2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524234
5.
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Front Pediatr
; 11: 1113422, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37435168
6.
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.
Mol Syndromol
; 14(3): 231-238, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323194
7.
Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy.
J Pediatr Endocrinol Metab
; 36(12): 1146-1153, 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795793
8.
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Front Genet
; 14: 1191159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377599
9.
Molecular genetics of maple syrup urine disease in the Turkish population.
Turk J Pediatr
; 51(2): 97-102, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19480318