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

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

Clinical immunology (Orlando, Fla.) - 1 Apr 2016

Kiykim Ayca, Garncarz Wojciech, Karakoc-Aydiner Elif, Ozen Ahmet, Kiykim Ertugrul, Yesil Gozde, Boztug Kaan, Baris Safa

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Endopeptidase Clp
Share to Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nervous System Diseases

Share to Neutropenia

Source

Identifiers

PMID: 26916670
DOI: 10.1016/j.clim.2016.02.008

Genes

CLPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.PMID 26916670Read ↗

[CLPB gene mutations analysis in a case of type 3-methylglutaconic aciduria].Semantic proximity Read ↗

[Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene].Semantic proximity Read ↗

Heterozygous variants of CLPB are a cause of severe congenital neutropenia.Semantic proximity Read ↗

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.Semantic proximity Read ↗

A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia.Semantic proximity Read ↗

Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.Semantic proximity Read ↗

JAGN1 mutations in severe congenital neutropenia.Semantic proximity Read ↗

A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.Semantic proximity Read ↗

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.Semantic proximity Read ↗

A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.Semantic proximity Read ↗

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.Semantic proximity Read ↗

Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.Semantic proximity Read ↗

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