Colección: TEMAS

Temas Cantidad
ARCMT; CMT 4A; GDAP1; Novel mutation1
Acute infantile Gaucher disease; Motor regression; Hypotonia1
CIPNM; Insulin;Child1
Epilepsy; Brain CT scan; Children; Neuroimaging1
Ethylmalonic aciduria; neurodevelop-mental delay; report of a case.1
Fabry disease; Childhood; Enzyme replacement therapy1
Gastrointestinal Tract; Symptoms; Diagnosis; Child1
Genetic; lysosomal storage disease; Child; Iran1
Glutaric Aciduria; Iranian population;Mutation detection.1
HSAN type IV; Congenital insensitivity to pain; Anhidrosis1
Heart; Lysomoal disease; Treatment1
Idiopathic generalized epilepsy; EEG; Seizure type1
Imaging; organic acidemia; children, aminoacid.1
Keywords: Organic academia; plasma acylcarnitine profile; diagnosis.1
Lysosomal Storage Diseases, Rheumatology, Bone pain; Arthropathy1
Lysosomal disorders; Diagnosis; Approach1
Lysosomal myopathy; Myopathy; Pompe; Acid maltase deficiency, Danon1
Mucopolysaccharidosis 1; Child; Diagnosis; Therapy1
Oculodentodigitalis dysplasia; Epilepsy; Spasticity1
Organic academia; Prenatal diagnosis; Amniocentesis; Chorionic villous sampling.1
Organic academia; diagnosis; approach.1
Pompe disease; Children;EDX; EMG; Myotonic discharges1
Posterior, Fossa; Tumor; Surgery1
School Teachers; Knowledge; Attitude; Perception; Epilepsy1
Seizure; Glucose 6 phospate dehydrogenase deficiency; Acute hemolysis; Methemoglobinemia1
Seizures, Refractory; Children; Midazolam; Diazepam1
Status epilepticus; Refractory status epilepticus; Intravenous sodium valproate; Children1
Treatments; organic acidemia; Children.1
Tuberous sclerosis; Shagreen patch; Child; Cheek1