Detalhe da pesquisa
1.
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Mol Genet Metab
; 142(2): 108493, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772327
2.
Evaluation of the efficacy and associated complications of regional citrate anticoagulation in neonates: experience from a fourth level neonatal intensive care unit.
Eur J Pediatr
; 182(11): 4897-4908, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597047
3.
Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.
Pediatr Nephrol
; 37(6): 1387-1397, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34693482
4.
Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?
Klin Padiatr
; 234(4): 221-227, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35114702
5.
Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for.
Pediatr Int
; 64(1): e14953, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390086
6.
Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic.
Telemed J E Health
; 2022 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35363077
7.
Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience
Turk J Med Sci
; 50(1): 12-17, 2020 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31014046
8.
Correction: Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?
Klin Padiatr
; 2022 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172352
9.
Correction: Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?
Klin Padiatr
; 2022 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226927
10.
TMEM70 deficiency: long-term outcome of 48 patients.
J Inherit Metab Dis
; 38(3): 417-26, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326274
11.
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.
J Pediatr Endocrinol Metab
; 37(3): 280-288, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38253347
12.
Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.
J Pediatr Endocrinol Metab
; 37(3): 260-270, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353291
13.
Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.
Brain Dev
; 46(6): 213-218, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493042
14.
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Eur J Med Genet
; 68: 104927, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38382588
15.
Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?
Pediatr Neurol
; 155: 171-176, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38669799
16.
Literature review and outcome of classic galactosemia diagnosed in the neonatal period.
Clin Lab
; 59(9-10): 1139-46, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24273939
17.
IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders.
J Pediatr Endocrinol Metab
; 36(11): 1100-1108, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788389
18.
A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.
J Pediatr Endocrinol Metab
; 36(11): 1061-1071, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725148
19.
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.
Mol Syndromol
; 14(2): 136-142, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064336
20.
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Mol Syndromol
; 13(1): 69-74, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35221878