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1.
Arch Pediatr ; 10(2): 137-9, 2003 Feb.
Article in French | MEDLINE | ID: mdl-12829356

ABSTRACT

The Authors report two cases of APECED syndrome (Auto-immune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy) revealed by hyponatremia due to isolated mineralocorticoids deficiency. Such cases illustrate the variable endocrine features revealing the syndrome. The mechanisms underlying the auto-immune destruction of the adrenals are discussed.


Subject(s)
Hyponatremia/etiology , Mineralocorticoids/deficiency , Polyendocrinopathies, Autoimmune/complications , Polyendocrinopathies, Autoimmune/diagnosis , Adrenal Glands/pathology , Adrenal Glands/physiology , Child, Preschool , Humans , Hyponatremia/pathology , Male
4.
Arch Fr Pediatr ; 34(7 Suppl): CCXXXIII-CCXXXIX, 1977.
Article in French | MEDLINE | ID: mdl-412480

ABSTRACT

The case of two twins with micromelic dwarfism noticed at birth are reported. The studies performed on fibroblasts, lymphocytes and epiphyseal cartilage, suggest that a disturbance is involved in the cell division mechanisms.


Subject(s)
Diseases in Twins , Mucopolysaccharidosis IV/genetics , Cell Division , Humans , Infant, Newborn , Male , Mucopolysaccharidosis IV/embryology
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