Tag: Axinia Corcheş
SUMMARY The case of a 7 months old patient is presented; the patient has debut...
Contribution of cerebral imaging in a case of hydranencephaly
SUMMARY We present a case regarding a patient of 7 months old with several...
DEMYELINATING DISEASES OF THE CENTRAL NERVOUS SYSTEM – CNS:CLASSIFICATION AND ELEMENTS OF AETIOPATHOGENESIS
In the group of the demyelinating diseases there are a series of diseases whose characteristic...
ARACHNOID CYST OF CEREBRAL CONVEXITY
INTRODUCTION Out of the total of 635 cranial cerebral CT scans made in 2016 in...
IMPORTANCE OF ASSISTED MECHANICAL VENTILATION IN GENETIC NEUROMUSCULAR DISEASES
INTRODUCTION In the development of neuromuscular diseases, dyspnoea is inevitable and represents a challenge of...
GENETIC PERIPHERAL NEUROPATHIES IN POPULATIONSWITH CHARACTERISTICS OF ISOLATES FROM ROMANIA
I present the clinical-genetic characteristics of the sensory-motor neuropathies identified in Romania as part of...
CORNELIA DE LANGE SYNDROME
The Cornelia de Lange Syndrome is a rare genetic disease characterized plurimalformative syndrome, with the...
CORNELIA DE LANGE SYNDROME
The Cornelia de Lange Syndrome is a rare genetic disease characterized plurimalformative syndrome, with the...
THE JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY (MLD): THE CASE OF TWIN GIRLS
Metachromatic leukodystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the lysosomal...
CLINICAL AND GENETIC ASPECTS IN DYSTROPHINOPATHIES
Introduction Dystrophinopathies are X-linked recessive disorders caused by the deficit in dystrophin, the muscle protein...