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

X-linked recessive nephrolithiasis: presentation and diagnosis in children.

The Journal of pediatrics - 1 May 1998

Schurman S J, Norden A G, Scheinman S J

Abstract excerpt

We report a new X-linked recessive nephrolithiasis kindred. X-linked recessive nephrolithiasis is a recently described disease characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, chloride channel number 5. Screening individuals at risk with renal ultrasonography and measurement of urinary excretion of low...

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to Child, Preschool
Share to Genes, Recessive

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

Share to Genetic Linkage

Share to Mutation

Share to Pedigree

Share to Reference Values

Share to X Chromosome

Source

Identifiers

PMID: 9602200
DOI: 10.1016/s0022-3476(98)70318-x

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

X-linked recessive nephrolithiasis: presentation and diagnosis in children.PMID 9602200Read ↗

X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.Semantic proximity Read ↗

Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.Semantic proximity Read ↗

CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.Semantic proximity Read ↗

A common molecular basis for three inherited kidney stone diseases.Semantic proximity Read ↗

A review of the heritability of idiopathic nephrolithiasis.Semantic proximity Read ↗

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.Semantic proximity Read ↗

Pediatric Nephrolithiasis: Risk Factors, Evaluation, and Prevention.Semantic proximity Read ↗

A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis.Semantic proximity Read ↗

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria.Semantic proximity Read ↗

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.Semantic proximity Read ↗

A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene.Semantic proximity Read ↗

Role of Pediatric Nephrologist in Williams Syndrome: care from childhood to adulthoodSemantic proximity Read ↗

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