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 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772327
2.
Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease.
Am J Med Genet A
; : e63552, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38372211
3.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
4.
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Metab Brain Dis
; 36(6): 1201-1211, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704661
5.
Inflammatory rheumatic diseases in patients with ochronotic arthropathy.
Mod Rheumatol
; 31(5): 1031-1037, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33427541
6.
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.
J Inherit Metab Dis
; 42(6): 1176-1191, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268178
7.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
8.
Effect of Blood Phenylalanine Levels on Oxidative Stress in Classical Phenylketonuric Patients.
Cell Mol Neurobiol
; 38(5): 1033-1038, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29285660
9.
A surprising cause of proteinuria: Questions.
Pediatr Nephrol
; 37(5): 1031-1032, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999980
10.
A surprising cause of proteinuria: Answers.
Pediatr Nephrol
; 37(5): 1033-1039, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999986
11.
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Eur J Pediatr
; 174(8): 1077-84, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754625
12.
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Mol Genet Metab
; 113(4): 267-73, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25410056
13.
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Am J Hum Genet
; 86(5): 797-804, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20451170
14.
Management of acute metabolic crisis in TANGO2 deficiency: a case report.
J Pediatr Endocrinol Metab
; 36(10): 983-987, 2023 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37381587
15.
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.
Turk J Pediatr
; 54(4): 409-12, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692723
16.
Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa.
Mol Genet Metab Rep
; 32: 100904, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046398
17.
Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.
Turk Arch Pediatr
; 57(4): 432-440, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822476
18.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Life (Basel)
; 12(11)2022 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362876
19.
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
Eur J Med Genet
; 64(5): 104197, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33746036
20.
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype.
J Pediatr Genet
; 9(2): 101-103, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341812