Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

European journal of pediatrics - 1 May 1998

Peter M, Bünger K, Sólyom J, Sippell W G

Abstract excerpt

UNLABELLED: Two boys presenting with infection-triggered, life-threatening salt-loss and hyperkalaemia were published in 1991 in the European Journal of Pediatrics. In both boys, the diagnosis of corticosterone methyl oxidase (CMO) deficiency type II has been established on the basis of determinations of plasma and urinary steroids. We had the opportunity to perform a molecular genetic study in one of the two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Cytochrome P-450 CYP11B2
Share to Infant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Metabolism, Inborn Errors

Share to Mixed Function Oxygenases

Share to Mutation

Source

Identifiers

PMID: 9625333
DOI: 10.1007/s004310050833

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.PMID 9625333Read ↗

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.Semantic proximity Read ↗

Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.Semantic proximity Read ↗

Inborn errors of aldosterone biosynthesis in humans.Semantic proximity Read ↗

Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.Semantic proximity Read ↗

Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.Semantic proximity Read ↗

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.Semantic proximity Read ↗

[Variability of corticosterone methyl oxidase (type II) deficiency. Presentation of three case reports].Semantic proximity Read ↗

Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran.Semantic proximity Read ↗

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.Semantic proximity Read ↗

Type 1 aldosterone synthase deficiency presenting in a middle-aged man.Semantic proximity Read ↗

The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone.Semantic proximity Read ↗

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.