Detalhe da pesquisa
1.
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Mol Genet Metab
; 140(3): 107706, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837865
2.
Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.
Am J Med Genet A
; 182(7): 1608-1614, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32259399
3.
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
Am J Med Genet A
; 182(4): 705-712, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981409
4.
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.
Eur J Pediatr
; 179(7): 1107-1114, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32048023
5.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
6.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Mol Genet Metab
; 127(1): 1-11, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31103398
7.
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.
Am J Med Genet A
; 173(11): 2954-2967, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884960
8.
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride.
Gynecol Endocrinol
; 33(1): 19-20, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27898272
9.
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
J Inherit Metab Dis
; 39(3): 331-340, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038030
10.
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Eur J Pediatr
; 175(2): 261-72, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350228
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.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Mol Genet Metab
; 111(1): 16-25, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268530
13.
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Eur J Paediatr Neurol
; 49: 66-72, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38394710
14.
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
J Hum Genet
; 58(10): 675-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23924834
15.
Serum alpha-fetoprotein levels in neonatal cholestasis.
Turk J Pediatr
; 55(2): 152-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24192674
16.
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
Mol Genet Metab
; 106(4): 419-23, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727635
17.
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Pediatr Nephrol
; 27(1): 115-21, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21786142
18.
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
19.
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
Turk J Pediatr
; 54(1): 52-8, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22397043
20.
Recommendations on phenylketonuria in Turkey.
Turk J Pediatr
; 64(3): 413-434, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899555