Jamie
http://www.emedicine.com/PED/topic1051.htm
1. Simard J, Rheaume E, Sanchez R, Laflamme N, de Launoit Y, Luu-The V, van Seters AP, Gordon RD, Bettendorf M, Heinrich U, et al, Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, Mol Endocrinol 1993 May;7(5):716-28. (PubMed)
2. Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I, A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, Hum Mol Genet 1995 Apr;4(4):745-6. (PubMed)
3. Sanchez R, Rheaume E, Laflamme N, Rosenfield RL, Labrie F, Simard J, Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency, J Clin Endocrinol Metab 1994 Mar;78(3):561-7. (PubMed)
4. Tajima T, Fujieda K, Nakae J, Shinohara N, Yoshimoto M, Baba T, Kino[expletive deleted]a E, Igarashi Y, Oomura T, Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency, Hum Mol Genet 1995 May;4(5):969-71. (PubMed)
Organizations related to Adrenal Hyperplasia, Congenital (General)
- Ambiguous Genitalia Support Network
P.O. Box 313
Clements CA 95227-0313
Phone #: 209-727-0313
800 #: N/A
e-mail: agsn@jps.net
Home page: N/A- CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research, Education and Support)
PO Box 264
Short Hills NJ 07078
Phone #: 973-912-3895
800 #: 866-227-3737
e-mail: Kelly@caresfoundation.org
Home page: http://www.caresfoundation.org- CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Rd
Crewe Intl CW2 6BG
Phone #: 44 -870- 7700 325
800 #: N/A
e-mail: info@climb.org.uk
Home page: http://www.CLIMB.org.uk- Intersex Society of North America
P.O. Box 301
Petaluma CA 94953
Phone #: 707-283-2170
800 #: N/A
e-mail: info@isna.org
Home page: http://www.isna.org- MAGIC Foundation for Children’s Growth
1327 North Harlem Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: resourcecenter@modimes.org
Home page: http://www.modimes.org- Metabolic Information Network (PHYSICIAN CALLS ONLY)
P.O. Box 670847
Dallas TX 75367-0847
Phone #: 214-696-2188
800 #: 800-945-2188
e-mail: mizesg@ix.netcom.com
Home page: N/A- NIH/National Institute of Child Health and Human Development
31 Center Dr
Bethesda MD 20892
Phone #: 301-496-5133
800 #: N/A
e-mail: N/A
Home page: http://www.nih.gov/hichd/- National Adrenal Diseases Foundation
505 Northern Bloulevard
Great Neck NY 11021
Phone #: 516-487-4992
800 #: N/A
e-mail: NADFmail@aol.com
Home page: http://medhelp.org/www/nadf.htm
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