نتایج جستجو برای: congenital adrenal hyperplasia

تعداد نتایج: 200591  

Journal: :The Southeast Asian journal of tropical medicine and public health 2003
Kikumaro Aoki

A newborn mass-screening program for the early detection of phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, using filter paper blood specimens, was started throughout Japan in 1977. The total number of newborns screened by March 2000 reached 29,657,738; this represents 95% of the newborns during this period. A ...

Journal: :Pakistan Journal of Medical Sciences 2012

Journal: :The Journal of Clinical Endocrinology & Metabolism 2004

Journal: :Current Opinion in Endocrinology & Diabetes and Obesity 2012

Journal: :Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 2011

Journal: :The Journal of clinical investigation 1991
D Lin S E Gitelman P Saenger W L Miller

Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia. Affected individuals can synthesize no steroid hormones, and hence are all phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy. All previous studies have suggested that the disorder is in the cholesterol side chain cleavage enzyme (P450scc), which conv...

Journal: :Current Opinion in Endocrinology, Diabetes and Obesity 2011

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