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Rare Genetic Steroid Disease Consortium (GSD) Apparent Mineralocorticoid Excess (AME) Syndrome Natural History Clinical Protocol

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Extensive clinical experience: nonclassical 21-hydroxylase deficiency.

M. New. (2006). The Journal of clinical endocrinology and metabolism. Cited 301 times. https://doi.org/10.1210/JC.2006-1645

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

R. Wilson, S. Nimkarn, M. Dumić, et al. (2007). Molecular genetics and metabolism. Cited 127 times. https://doi.org/10.1016/J.YMGME.2006.12.005

Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia.

S. Nimkarn, K. Lin-Su, N. Berglind, et al. (2007). The Journal of clinical endocrinology and metabolism. Cited 56 times. https://doi.org/10.1210/JC.2006-0964

Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.

Berrin Ergun-Longmire, R. Auchus, M. Papari-Zareei, et al. (2006). The Journal of clinical endocrinology and metabolism. Cited 11 times.