Detalhe da pesquisa
1.
Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot study.
Br J Nutr
; 131(1): 73-81, 2024 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424284
2.
Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.
Am J Med Genet A
; 191(12): 2843-2849, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565517
3.
Behavioral Data Analysis of Robot-Assisted Autism Spectrum Disorder (ASD) Interventions Based on Lattice Computing Techniques.
Sensors (Basel)
; 22(2)2022 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35062582
4.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
5.
The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred.
Am J Kidney Dis
; 74(4): 510-522, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31103331
6.
Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia.
Diagnostics (Basel)
; 14(7)2024 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38611595
7.
The Behavioural Paediatrics Feeding Assessment Scale is a reliable and valid tool for Greek children.
Acta Paediatr
; 2018 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751361
8.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert Rev Mol Diagn
; 23(1): 85-103, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714946
9.
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Am J Hum Genet
; 85(1): 76-86, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19576565
10.
A Pediatric Patient With Autism Spectrum Disorder and Comorbid Compulsive Behaviors Treated With Robot-Assisted Relaxation: A Case Report.
Cureus
; 14(2): e22409, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35371793
11.
The Efficacy and Safety of Ketogenic Diets in Drug-Resistant Epilepsy in Children and Adolescents: a Systematic Review of Randomized Controlled Trials.
Curr Nutr Rep
; 11(2): 102-116, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35303283
12.
Restricted Ketogenic Diet Therapy for Primary Lung Cancer With Metastasis to the Brain: A Case Report.
Cureus
; 14(8): e27603, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36059366
13.
Ketogenic therapy for Parkinson's disease: A systematic review and synthesis without meta-analysis of animal and human trials.
Maturitas
; 163: 46-61, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714419
14.
Efficacy of a Robot-Assisted Intervention in Improving Learning Performance of Elementary School Children with Specific Learning Disorders.
Children (Basel)
; 9(8)2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36010046
15.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain
; 133(Pt 3): 655-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20129935
16.
Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.
J Pediatr Endocrinol Metab
; 34(1): 127-130, 2021 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185574
17.
Mealtime Environment and Control of Food Intake in Healthy Children and in Children with Gastrointestinal Diseases.
Children (Basel)
; 8(2)2021 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498758
18.
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet.
JIMD Rep
; 60(1): 3-9, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258135
19.
The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex.
Pediatr Neurol
; 123: 43-49, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34399109
20.
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Epilepsy Behav Rep
; 16: 100477, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34568804