Detalhe da pesquisa
1.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Brain
; 146(7): 3003-3013, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729635
2.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
3.
Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.
Eur J Pediatr
; 181(1): 383-391, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355277
4.
Risk Factors for Clinical Seizures in Neonates with Hypoxic-ischemic Encephalopathy Treated with Therapeutic Hypothermia.
Klin Padiatr
; 234(4): 206-214, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35231937
5.
Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.
Pediatr Int
; 64(1): e15317, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331231
6.
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
Neurol Sci
; 39(12): 2123-2128, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209698
7.
The association between serum vitamin B12 deficiency and tension-type headache in Turkish children.
Neurol Sci
; 39(6): 1009-1014, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29520674
8.
Correction: Risk Factors for Clinical Seizures in Neonates with Hypoxic-ischemic Encephalopathy Treated with Therapeutic Hypothermia.
Klin Padiatr
; 2022 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35793689
9.
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
Mol Syndromol
; 15(3): 257-268, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38841323
10.
A different perspective into clinical symptoms in CPT I deficiency.
Mol Genet Metab Rep
; 38: 101032, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38090675
11.
Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis.
J Pediatr Endocrinol Metab
; 36(2): 167-173, 2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524234
12.
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.
Mol Syndromol
; 14(3): 231-238, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323194
13.
Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy.
J Pediatr Endocrinol Metab
; 36(12): 1146-1153, 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795793
14.
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Front Genet
; 14: 1191159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377599
15.
A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report.
J Pediatr Intensive Care
; 11(1): 62-66, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178279
16.
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
J Coll Physicians Surg Pak
; 30(7): 780-785, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34271776
17.
Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.
J Pediatr Endocrinol Metab
; 34(1): 89-94, 2021 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189081
18.
The first Turkish family with Rotor syndrome diagnosed at the molecular level.
Turk Pediatri Ars
; 55(4): 430-433, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414662
19.
Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B.
J Pediatr Intensive Care
; 9(2): 145-148, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32351772
20.
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency. / Un trastorno poco frecuente del ciclo de la urea en un recién nacido: deficiencia de N-acetilglutamato sintasa.
Arch Argent Pediatr
; 118(6): e545-e548, 2020 12.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-33231058