… J Inherit Metab Dis 1984;7(Suppl 1):33–7. … J Inherit Metab Dis 1985;8(Suppl 2): 145– 6. …
Harpey JP, Charpentier C, Goodman SI, Darbois Y, Lefebvre G, Sebbah J. Multiple acyl-CoA …

We report a five-year-old boy with 4-hydroxybutyric aciduria. The child presented with
global developmental delay, severe hypotonia and myoclonic seizures. The urine 4-hydroxybutyric …

A 2-year, 6-month-old Saudi male with infantile Krabbe’s disease was studied with fluorine-18-labeled-2-fluoro-2-deoxyglucose
positron emission tomography (FDG PET) scan. The …

The clinical, biochemical, pathological and neuroradiological findings of a 2-year-old Saudi
boy with infantile G M1 gangliosidosis are reported. The patient had a progressive …

… Brismar J. CT and MRI of the brain in inherited neurometabolic disorders. … Al-Essa M,
Bakheet S, Al-Shamsan L, Patay Z, Powe J, Ozand PT. FDG PET scan and MRI brain scan in type …

septum, and a thrombus in the right atrium and inferior vena cava that was subsequently
treated with streptokinase. The initial computed tomography scan of the brain indicated white …

We established a standard, reproducible MRI-MRA imaging protocol for intracranial meningiomas
and tested its feasibility and value in clinical settings. We then create a new, simplified …

Purpose: Report relevance of molecular groups to clinicopathologic features, germline
SMARCB1/SMARCA4 alterations (GLA), and survival of children with atypical teratoid rhabdoid …

We reviewed clinical, laboratory and MR findings in patients with primary Sjögren's
syndrome whose initial clinical manifestations were related to CNS involvement. MR is highly …

Background Posterior fossa syndrome (PFS) is a severe, postoperative complication occurring
in about 25 % of pediatric patients undergoing surgery for midline tumors in the posterior …