Detalhe da pesquisa
1.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
; 22(3): 610-621, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761904
2.
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
3.
Combination of two different homozygote mutations in Pompe disease.
Pediatr Int
; 58(3): 241-243, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26946079
4.
Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective.
Front Public Health
; 11: 1092895, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794069
5.
Chromium levels in healthy and newly diagnosed type 1 diabetic children.
Pediatr Int
; 54(6): 780-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22783884
6.
Recommendations on phenylketonuria in Turkey.
Turk J Pediatr
; 64(3): 413-434, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899555
7.
Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.
J Pediatr Endocrinol Metab
; 35(5): 681-685, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107903
8.
A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.
J Pediatr Endocrinol Metab
; 24(1-2): 105-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21528827
9.
Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.
Turk J Pediatr
; 63(2): 314-318, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33929122
10.
Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report.
J Pediatr Endocrinol Metab
; 34(10): 1335-1339, 2021 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34171939
11.
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.
Orphanet J Rare Dis
; 14(1): 168, 2019 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31287005
12.
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
13.
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
Mol Diagn Ther
; 21(6): 643-651, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28808920
14.
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
J Pediatr Endocrinol Metab
; 30(7): 713-718, 2017 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28593914
15.
An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency.
J Pediatr Endocrinol Metab
; 30(2): 237-239, 2017 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28085674
16.
Erratum to `Recommendations on phenylketonuria in Turkey` [Turk J Pediatr 2022; 64: 413-434].
Turk J Pediatr
; 64(6): 1175, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583907
17.
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.
Balkan Med J
; 33(3): 370-2, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27308087
18.
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
J Pediatr Endocrinol Metab
; 29(4): 481-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26669244
19.
Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation.
J Pediatr Endocrinol Metab
; 29(7): 863-6, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27089410
20.
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.
Clin Chim Acta
; 452: 185-90, 2016 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26612772