Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.

A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Pineda, M, Pavia, C, Vilaseca, M A, Ferrer, I, Temudo, T, Chabas, A, Stibler, H, Jaeken, J
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1511428/
https://ncbi.nlm.nih.gov/pubmed/8787432
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