Colección: TEMAS
Temas | Cantidad |
---|---|
ARCMT; CMT 4A; GDAP1; Novel mutation | 1 |
Acute infantile Gaucher disease; Motor regression; Hypotonia | 1 |
CIPNM; Insulin;Child | 1 |
Epilepsy; Brain CT scan; Children; Neuroimaging | 1 |
Ethylmalonic aciduria; neurodevelop-mental delay; report of a case. | 1 |
Fabry disease; Childhood; Enzyme replacement therapy | 1 |
Gastrointestinal Tract; Symptoms; Diagnosis; Child | 1 |
Genetic; lysosomal storage disease; Child; Iran | 1 |
Glutaric Aciduria; Iranian population;Mutation detection. | 1 |
HSAN type IV; Congenital insensitivity to pain; Anhidrosis | 1 |
Heart; Lysomoal disease; Treatment | 1 |
Idiopathic generalized epilepsy; EEG; Seizure type | 1 |
Imaging; organic acidemia; children, aminoacid. | 1 |
Keywords: Organic academia; plasma acylcarnitine profile; diagnosis. | 1 |
Lysosomal Storage Diseases, Rheumatology, Bone pain; Arthropathy | 1 |
Lysosomal disorders; Diagnosis; Approach | 1 |
Lysosomal myopathy; Myopathy; Pompe; Acid maltase deficiency, Danon | 1 |
Mucopolysaccharidosis 1; Child; Diagnosis; Therapy | 1 |
Oculodentodigitalis dysplasia; Epilepsy; Spasticity | 1 |
Organic academia; Prenatal diagnosis; Amniocentesis; Chorionic villous sampling. | 1 |
Organic academia; diagnosis; approach. | 1 |
Pompe disease; Children;EDX; EMG; Myotonic discharges | 1 |
Posterior, Fossa; Tumor; Surgery | 1 |
School Teachers; Knowledge; Attitude; Perception; Epilepsy | 1 |
Seizure; Glucose 6 phospate dehydrogenase deficiency; Acute hemolysis; Methemoglobinemia | 1 |
Seizures, Refractory; Children; Midazolam; Diazepam | 1 |
Status epilepticus; Refractory status epilepticus; Intravenous sodium valproate; Children | 1 |
Treatments; organic acidemia; Children. | 1 |
Tuberous sclerosis; Shagreen patch; Child; Cheek | 1 |