Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.

Background: Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3-5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aimed to evaluate the effective pharmacokinetics and pharmacodynamics of Sebelipase alfa when administered to patients with severe WD at 5 mg/kg twice weekly, an intensive regimen which was not assessed in the trials.

Etiology of avascular necrosis of the hip and shoulder. Screening for Gaucher disease.

Introduction: Avascular necrosis (AON) of the hip and shoulder is a little studied disease and the predisposing risk factors for its development are not well known. A high percentage of patients are diagnosed with idiopathic osteonecrosis. This study aims to investigate the prevalence of potential etiological factors for AON and to screen for Gaucher disease among patients with idiopathic AON.

The LINCE Project: A Pathway for Diagnosing NCL2 Disease.

Introduction: Neuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. Neuronal Ceroid lipofuscinosis type 2 disease (NCL2), caused by the deficient lysosomal enzyme tripeptidyl peptidase 1 (TPP1), is the only one with an approved enzyme replacement treatment (ERT). Early initiation of ERT appears to modify significantly the natural history of the disease.

Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.

Rationale: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of the enzyme arylsulfatase B, responsible for the hydrolysis of N-acetyl-D-galactosamine, chondroitin sulfate, and dermatan sulfate.

Patient Concerns: A 3-year-old male with Moroccan origins is the index case. He had healthy consanguineous parents and 4 healthy brothers and sisters.

Deactivation of the coordinating ability of the iminophosphorane group by the effect of ortho-carborane.

The C-carboranyl iminophosphorane compounds derived from triphenylphosphine (I1) and o-(methylthiophenyl)-diphenylphosphine (I2) were obtained and structurally characterized. Functionalization with sulfur on the other cage carbon atom gave the corresponding disulfides (L1L1 and L2L2). In the case of I1 it was also possible to isolate the trisulfide (L1SL1) and the thiol (L1H), which is not in the expected zwitterionic form, showing that the carborane group reduces the basicity of the nitrogen atom.