Detalhe da pesquisa
1.
Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers.
Blood Cells Mol Dis
; 100: 102728, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36738539
2.
Evaluation of the effect of obesity, dietary glycemic index and metabolic profiles on the cardiovascular risk in children with classical phenylketonuria.
Mol Genet Metab
; 140(3): 107677, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37544048
3.
PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
Am J Med Genet A
; 191(5): 1360-1365, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706222
4.
The etiology and age-related properties of patients with delirium in coronary intensive care unit and its effects on inhospital and follow up prognosis.
Ideggyogy Sz
; 73(05-06): 189-197, 2020 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579309
5.
Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency.
J Pediatr Hematol Oncol
; 41(1): e54-e56, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620684
6.
The Inflammation-Based Glasgow Prognostic Score as a Prognostic Factor in Patients with Intensive Cardiovascular Care Unit.
Medicina (Kaunas)
; 55(5)2019 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31096693
7.
Long-term efficacy of lipoprotein apheresis in the management of familial hypercholesterolaemia: Application of two different apheresis techniques in childhood.
Transfus Apher Sci
; 54(2): 282-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26577019
8.
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.
Pediatr Int
; 58(10): 1069-1072, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27285949
9.
The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome.
Neuropediatrics
; 46(5): 313-20, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26267703
10.
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.
Neuropediatrics
; 46(6): 420-3, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26479764
11.
Oxidative and chromosomal DNA damage in patients with type I Gaucher disease and carriers.
Clin Biochem
; 111: 26-31, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36257477
12.
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Mol Genet Metab
; 107(3): 534-41, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22959828
13.
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
Pediatr Blood Cancer
; 59(1): 191-3, 2012 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22605457
14.
Successful treatment of homozygous familial hypercholesterolemia using cascade filtration plasmapheresis.
Turk J Haematol
; 29(4): 334-41, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385721
15.
Identifying the effects of excess weight, metabolic syndrome and insulin resistance on liver stiffness using ultrasound elastography in children.
Turk J Pediatr
; 64(4): 671-682, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36082641
16.
A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.
Clin Chim Acta
; 529: 61-66, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35167844
17.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Life (Basel)
; 12(11)2022 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362876
18.
Phenylketonuria with acute myeloblastic leukemia in a 9-year-old boy: reporting a rare case.
J Pediatr Hematol Oncol
; 33(6): e256-7, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21792031
19.
Determining the effects of excess weight on renal cortical stiffness in children and adolescents with point Shear Wave Elastography.
Med Ultrason
; 23(3): 271-276, 2021 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33793699
20.
Evaluation of micronutrient levels in children and adolescents with obesity and their correlation with the components of metabolic syndrome.
Turk J Pediatr
; 63(1): 48-58, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686826