Dimitrios Zafeiriou
A5061352697- Metabolism and Genetic Disorders
- Neonatal and fetal brain pathology
- Cerebral Palsy and Movement Disorders
- Lysosomal Storage Disorders Research
- Infant Development and Preterm Care
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Hemoglobinopathies and Related Disorders
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Pharmacological Effects and Toxicity Studies
- Biochemical and Molecular Research
- Child Nutrition and Feeding Issues
- Neurofibromatosis and Schwannoma Cases
- Botulinum Toxin and Related Neurological Disorders
- Amino Acid Enzymes and Metabolism
- Iron Metabolism and Disorders
- Trypanosoma species research and implications
- Blood Coagulation and Thrombosis Mechanisms
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Tuberous Sclerosis Complex Research
- Neurogenetic and Muscular Disorders Research
- Diet and metabolism studies
- RNA modifications and cancer
Aristotle University of Thessaloniki
2016-2025
Hippocration General Hospital
2013-2025
Ippokrateio General Hospital of Thessaloniki
2016-2025
University of Freiburg
2024
Aga Khan University
2021
Telio (Norway)
1996-2021
Papageorgiou General Hospital
2019-2020
General Hospital of Athens G. Genimatas
2019
Children's Hospital of Philadelphia
2018
Institute of Child Health
2016
Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception inborn errors of metabolism, since many these disorders are responsive to therapy that targets pathophysiological features at molecular or cellular level.To uncover genetic basis potentially treatable we combined deep clinical phenotyping (the comprehensive...
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are expressed preferentially photoreceptor cells or pigment epithelium but they involved strikingly different physiologic pathways resulting an unforeseeable physiopathologic variety. This wide genetic heterogeneity that could largely increase coming years, hinders molecular...
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. has been reported in fewer than 40 patients worldwide. To recapitulate all available evidence on clinical phenotypes and rational diagnostic therapeutic approaches for this devastating, but treatable, neurometabolic disorder, we studied 36 with tyrosine reviewed the literature. Based presenting neurological features, can be divided two phenotypes: infantile onset, progressive,...
Abstract Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It considered heterogeneous respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the referred as MPSIIIA, B, C, and D are known), causative mutations. The perspective therapeutic options emphasizes need for better knowledge MPSIII incidence natural history. We performed parallel...
Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. aim to improve awareness the phenotype available diagnostic therapeutic strategies reduce delayed diagnosis or misdiagnosis, optimize management, understanding pathophysiologic mechanisms.Forty-three individuals SRD were identified from 23 international medical centers. The treatment...
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of condition and, as consequence, patients show modified phenotype which reflects their disease are refractory to treatment. More generally, it increasingly recognised information how patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] critical any comprehensive evaluation A new set management goals for GD1 in both trends reflected...
Severe complications of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) include arterial ischemic stroke (AIS) in adults and multisystem inflammatory children. Whether is a frequent complication pediatric SARS-CoV-2 unknown. This study aimed to determine the proportion cases with incident strokes first 3 months pandemic an international cohort.We surveyed 61 sites expertise. Survey questions included: numbers hospitalized (≤ 18 years) patients SARS-CoV-2; neonatal childhood...
Purpose: To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric aciduria (L2HGA) and to evaluate correlation between disease duration. Materials Methods: MR images 56 patients (30 male, 26 female; mean age ± standard deviation, 11.9 years 8.5) with genetically confirmed L2HGA were retrospectively reviewed, institutional review board approval waiver informed consent. At least one complete series transverse T2-weighted was available for all patients....
<h3>Objective</h3> The impetus for this consensus discussion was to recommend clinical trial designs that can deliver high-quality data effective therapies pediatric patients, in a reasonable timeframe, with key focus on short- and long-term safety. <h3>Methods</h3> International Pediatric Multiple Sclerosis Study Group convened meeting of experts review the advances understanding pediatric-onset multiple sclerosis (MS) advent trials population. <h3>Results</h3> In last few years, convincing...
The aims of the study were to describe prevalence and characteristics epilepsy in a population patients with cerebral palsy university referral center determine rate relapse caused by discontinuation antiepileptic drugs after 3-year seizure-free period. A total 178 consecutive prospectively followed for 9.2 ± 2.4 years onset seizures compared control group 150 epileptic without (median follow-up period, 10.5 years). overall was 36.1%. Patients atonic-diplegic, dystonic, tetraplegic,...
Autism is a severe childhood disorder already presenting in the first 3 years of life and, therefore, strongly correlated with neurodevelopmental alterations prenatal, as well postnatal period. Neurotransmitters hold pivotal role development by providing stimulation needed for synapses and neuronal networks to be formed during critical period neuroplasticity. Aberrations serotonergic system modify key processes developing brain are implicated pathophysiology developmental disorders. Evidence...