Publications by authors named "P Dolhem"
Article Synopsis
- Long-term outcome data indicate that velmanase alfa is effective for treating alpha-mannosidosis (AM), showing significant improvements in both biochemical and functional measures over up to 4 years of treatment.
- Analysis involved 33 patients (14 adults, 19 children) who continued treatment after clinical trials, with key findings including substantial reductions in serum oligosaccharide levels and improved performance in a stair climb test.
- Results suggest that early treatment during childhood leads to better functional outcomes, and no serious adverse events caused treatment discontinuation, highlighting the therapy's safety and effectiveness.
Background: Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease.
View Article and Find Full Text PDFGastrointestinal symptoms are very frequent in myotonic dystrophy but largely unrecognized. They can be the revealing factors of the disease. We report 2 cases of 10 and 17-year-old children with persistent encopresis starting at the age of 3 and 5 years in spite of laxative treatment.
View Article and Find Full Text PDFWe report the sporadic case of a boy with clinical features of KBG syndrome, including slight mental retardation, characteristic facies, macrodontia, and skeletal anomalies.
View Article and Find Full Text PDFUnlabelled: The aim of this study was to determine the metrological parameters of a french version of the Pleasure Scale for Children (PSC): 214 (121 males and 93 females) with a mean age of 8.69 years (sd: 1.95) ranging from 6 years to 12 years were included in the study.
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