Detalhe da pesquisa
1.
Evaluation of bone health in patients with mucopolysaccharidosis.
J Bone Miner Metab
; 40(3): 498-507, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066680
2.
Novel therapies for mucopolysaccharidosis type III.
J Inherit Metab Dis
; 44(1): 129-147, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944950
3.
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Neuropediatrics
; 52(5): 358-369, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578440
4.
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Turk J Med Sci
; 51(3): 1220-1228, 2021 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33453710
5.
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Int J Mol Sci
; 21(14)2020 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32709131
6.
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
Metab Brain Dis
; 33(3): 977-979, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159724
7.
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Metab Brain Dis
; 33(4): 1223-1227, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656334
8.
Targeting the liver to treat the eye.
EMBO Mol Med
; 15(4): e17285, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36846970
9.
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.
Biomedicines
; 11(8)2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626723
10.
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
Eur J Med Genet
; 66(6): 104764, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061027
11.
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Mol Genet Metab Rep
; 37: 101020, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053940
12.
Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.
J Pediatr Endocrinol Metab
; 35(4): 535-541, 2022 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34883004
13.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Life (Basel)
; 12(11)2022 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362876
14.
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Turk J Pediatr
; 61(3): 330-336, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31916709
15.
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
J Pediatr Endocrinol Metab
; 31(3): 339-343, 2018 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29353266
16.
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
Turk J Pediatr
; 59(3): 311-314, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29376577
17.
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.
Turk J Pediatr
; 59(4): 434-441, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624224
18.
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
Turk J Pediatr
; 58(4): 362-370, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276207
19.
Predictors of intractable childhood epilepsy.
Pediatr Neurol
; 48(1): 52-5, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23290021