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.
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Mol Genet Metab
; 142(2): 108493, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772327
3.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375550
4.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
5.
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
6.
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
7.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
8.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
9.
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
Clin Genet
; 100(3): 308-317, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013567
10.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
11.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
12.
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Metab Brain Dis
; 36(6): 1213-1222, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791923
13.
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
14.
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
15.
Climate risk, culture and the Covid-19 mortality: A cross-country analysis.
World Dev
; 141: 105412, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495666
16.
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
17.
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
18.
Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.
Pancreatology
; 20(4): 644-646, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32205061
19.
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
20.
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.
Eur J Pediatr
; 178(7): 1005-1011, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053953