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The primary research emphasis is on genetic steroid disorders. We continue to study two monogenic disorders: 21-hydroxylase deficiency and-hydroxylase deficiency, emphasizing genotype/phenotype correlation and prenatal diagnosis and treatment. A more precise definition of salt-wasting Congenital Adrenal Hyperplasia owing to 21-hydroxylase deficiency is being developed, in which mineralocorticoid secretion is evaluated by salt-deprivation studies. For the first time, patients who were treated in fetal life are old enough to participate in long-term outcome studies.
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论文共 29 篇作者统计合作学者相似作者
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Elsevier eBookspp.355-361, (2023)
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Endocrinology: Adult and Pediatricpp.1810-1832.e6, (2016)
53rd ESPE Meeting (2014)
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Mabel Yau, Christian Enrique Pina,Ahmed Khattab,Maria I. New, Lauren B. Bruckner,Jeffrey R. Andolina
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Ahmed Khattab,Mabel Yau,Sorahia Domenice,Dwaipayan Muhuri,Elaine Maria Frade Costa, Tony Yuen, Christian Enrique Pina,Mirian Yumie Nishi, Amy C. Yang,Berenice B. Mendonca,Maria I. New
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