Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Emma A van der Poest Clement"'
Publikováno v:
Journal of Child Neurology. 33:519-524
Vigabatrin is recommended as first-line treatment for infantile spasms in tuberous sclerosis complex (TSC), but other indications in children with tuberous sclerosis complex are less known. We retrospectively reviewed 201 children with tuberous scler
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2017)
Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports
Summary Cushing’s syndrome is a rare disease that results from prolonged exposure to supraphysiological levels of glucocorticoids. Severe and rapidly progressive cases are often, but not exclusively, attributable to ectopic ACTH secretion. Extreme
Publikováno v:
Journal of International Child Neurology Association (2018)
Hypochondroplasia is a disorder caused by FGFR3 mutations, commonly featuring short limbs and stature. Thanatophoric dysplasia, achondroplasia and Muenke syndrome are genetically related conditions with skeletal dysplasia and temporal lobe dysgenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab859001371903ab1cefa4e73899258
https://jicna.org/index.php/journal/article/view/100
https://jicna.org/index.php/journal/article/view/100