Detalhe da pesquisa
1.
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.
Mol Genet Metab
; 141(1): 108117, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38134582
2.
COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity.
Mol Genet Metab
; 139(2): 107607, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37201420
3.
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
4.
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Metab Brain Dis
; 36(6): 1411, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106389
5.
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Metab Brain Dis
; 36(6): 1405-1410, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014443
6.
Oral health status of children and young adults with maple syrup urine disease in Turkey.
BMC Oral Health
; 21(1): 8, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407387
7.
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
8.
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
9.
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Fetal Pediatr Pathol
; 39(2): 163-171, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303091
10.
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
11.
Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment.
Neuropediatrics
; 48(1): 49-52, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27690368
12.
Comment on the "NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure".
J Pediatr Gastroenterol Nutr
; 74(5): e130, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149645
13.
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
14.
Key features and clinical variability of COG6-CDG.
Mol Genet Metab
; 116(3): 163-70, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26260076
15.
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
16.
Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.
CEN Case Rep
; 13(2): 81-85, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341884
17.
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
18.
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
19.
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
20.
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