Detalhe da pesquisa
1.
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
Am J Med Genet A
; 194(6): e63545, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264826
2.
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
3.
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
4.
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
5.
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
6.
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
7.
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.
Metab Brain Dis
; 31(5): 1181-3, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27188289
8.
Hashimoto's encephalopathy: four cases and review of literature.
Int J Neurosci
; 124(4): 302-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23967879
9.
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
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.
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
Eur J Hum Genet
; 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789084
12.
Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age.
Turk J Pediatr
; 54(4): 352-61, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692715
13.
More than tubular dysfunction: cystinosis and kidney outcomes.
J Nephrol
; 35(3): 831-840, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097292
14.
Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case.
Turk Arch Pediatr
; 56(1): 78-80, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013236
15.
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
J Pediatr Endocrinol Metab
; 22(11): 1033-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101889
16.
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
17.
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor ß1 and biotinidase deficiencies.
Turk J Pediatr
; 60(5): 584-587, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968642
18.
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
19.
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
20.
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