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1.
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
J Inherit Metab Dis
; 38(5): 957-67, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25526710
2.
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
Eur J Endocrinol
; 149(2): 137-44, 2003 Aug.
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en Inglés
| MEDLINE | ID: mdl-12887291
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