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18-oxidase deficiency相关文献:
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M, Dubuis JM, Sippell WG.
Horm Res. 1999;51(5):211-22. doi: 10.1159/000023374.
PMID:10559665
Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
Üstyol A, Atabek ME, Taylor N, Yeung MC, Chan AO.
J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):356-9. doi: 10.4274/jcrpe.2824. Epub 2016 Apr 29.
PMID:27125267
Molecular biology of 11β-hydroxylase and 11β-hydroxysteroid dehydrogenase enzymes.
White PC, Pascoe L, Curnow KM, Tannin G, Rösler A.
J Steroid Biochem Mol Biol. 1992 Dec;43(8):827-35. doi: 10.1016/0960-0760(92)90309-7.
PMID:22217826
X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.
Ismail HM, Rincon M.
Endocr Pract. 2014 Jul;20(7):e126-9. doi: 10.4158/EP14033.CR.
PMID:24641931
Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.
Jessen CL, Christensen JH, Birkebaek NH, Rittig S.
Acta Paediatr. 2012 Nov;101(11):e519-25. doi: 10.1111/j.1651-2227.2012.02823.x.
PMID:22931312
[Four cases of aldosterone synthase deficiency in childhood].
Collinet E, Pelissier P, Richard O, Gay C, Pugeat M, Morel Y, Stephan JL.
Arch Pediatr. 2012 Nov;19(11):1191-5. doi: 10.1016/j.arcped.2012.08.018. Epub 2012 Oct 10.
PMID:23062999
Mechanisms of renal control of potassium homeostasis in complete aldosterone deficiency.
Todkar A, Picard N, Loffing-Cueni D, Sorensen MV, Mihailova M, Nesterov V, Makhanova N, Korbmacher C, Wagner CA, Loffing J.
J Am Soc Nephrol. 2015 Feb;26(2):425-38. doi: 10.1681/ASN.2013111156. Epub 2014 Jul 28.
PMID:25071088
Combined 17 alpha- and 18-hydroxylase deficiency associated with complete male pseudohermaphroditism and hypoaldosteronism.
Waldhäusl W, Herkner K, Nowotny P, Bratusch-Marrain P.
J Clin Endocrinol Metab. 1978 Feb;46(2):236-46. doi: 10.1210/jcem-46-2-236.
PMID:312294
Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature.
Lages AS, Vale B, Oliveira P, Cardoso R, Dinis I, Carrilho F, Mirante A.
Arch Endocrinol Metab. 2019 Feb;63(1):84-88. doi: 10.20945/2359-3997000000107.
PMID:30864636
Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.
Papailiou S, Vlachopapadopoulou EA, Sertedaki A, Maritsi D, Syggelos N, Syggelou A.
Endocr Regul. 2020 Jul 1;54(3):227-229. doi: 10.2478/enr-2020-0025.
PMID:32857717
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