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

Blue Diaper Syndrome and PCSK1 Mutations

1 Apr 2018

Abstract excerpt

Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) is an extremely rare disorder that was first described in 1964. The characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants. Additional clinical features of the first described patients included diarrhea, inadequate weight gain, hypercalcemia, and nephrocalcinosis. An intestinal defect of...

Read the complete abstract on PubMed

Topics

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

Share to Biomedical Research and Pathophysiology
Share to Ion Transport and Channel Regulation
Share to Pancreatic function and diabetes

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

Source

Identifiers

PMID: 29610180
DOI: 10.1542/peds.2017-0548

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

Blue Diaper Syndrome and PCSK1 MutationsPMID 29610180Read ↗

Congenital diseases of the gastrointestinal tract.Semantic proximity Read ↗

The genetics of monogenic intestinal epithelial disorders.Semantic proximity Read ↗

Advances in Evaluation of Chronic Diarrhea in Infants.Semantic proximity Read ↗

Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review.Semantic proximity Read ↗

A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.Semantic proximity Read ↗

Congenital Diarrheal Syndromes.Semantic proximity Read ↗

Early onset congenital diarrheas; single center experience.Semantic proximity Read ↗

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.Semantic proximity Read ↗

Russell-Silver Syndrome and Associated Feeding Challenges.Semantic proximity Read ↗

SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.Semantic proximity Read ↗

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.Semantic proximity Read ↗

A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.Semantic proximity Read ↗

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