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1.
Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood.
Endocr J
; 55(2): 397-404, 2008 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-18385531
2.
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
J Clin Endocrinol Metab
; 87(6): 2668-73, 2002 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12050231
3.
Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates.
J Clin Endocrinol Metab
; 89(12): 6087-91, 2004 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-15579762
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