A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

doi:10.1007/s10545-017-0057-z

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Article

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

Journal of inherited metabolic disease - 1 Nov 2017

Pronicka Ewa, Ropacka-Lesiak Mariola, Trubicka Joanna, Pajdowska Magdalena, Linke Markus, Ostergaard Elsebet, Saunders Carol, Horsch Sandra, van Karnebeek Clara, Yaplito-Lee Joy, Distelmaier Felix, Õunap Katrin, Rahman Shamima, Castelle Martin, Kelleher John, Baris Safa, Iwanicka-Pronicka Katarzyna, Steward Colin G, Ciara Elżbieta, Wortmann Saskia B

Abstract excerpt

Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and hypertonia, movement disorder and progressive brain atrophy are frequently reported. We present the foetal, peri- and neonatal features of...

Topics

Adolescent
Adult
Atrophy
Brain Diseases
Cataract
Child
Child, Preschool
Endopeptidase Clp
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fetus

Humans

Hyperekplexia

Infant

Infant, Newborn

Male

Metabolism, Inborn Errors

Movement Disorders

Neutropenia

Source

Open in PubMed

Identifiers

PMID: 28687938
DOI: 10.1007/s10545-017-0057-z

Genes

CLPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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