Detalhe da pesquisa
1.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733639
2.
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.
Neurol Sci
; 44(11): 3827-3852, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37458841
3.
Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.
J Paediatr Child Health
; 59(11): 1238-1243, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37700622
4.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
5.
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
6.
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Metab Brain Dis
; 37(4): 1283-1287, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35254599
7.
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
8.
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
9.
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.
Metab Brain Dis
; 34(2): 495-503, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712135
10.
Congenital erythropoietic porphyria with erythrodontia: A case report.
Int J Paediatr Dent
; 29(4): 542-548, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706587
11.
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
12.
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
13.
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.
J Pediatr Endocrinol Metab
; 37(6): 543-552, 2024 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38706300
14.
A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland.
Orphanet J Rare Dis
; 18(1): 173, 2023 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37391835
15.
Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey.
Arch Pediatr
; 30(7): 450-454, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331832
16.
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
17.
More than tubular dysfunction: cystinosis and kidney outcomes.
J Nephrol
; 35(3): 831-840, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097292
18.
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.
Orphanet J Rare Dis
; 16(1): 144, 2021 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33752727
19.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nat Commun
; 12(1): 5529, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545092
20.
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