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

Verbal dyspraxia and galactosemia.

Pediatric research - 1 Mar 2003

Webb Amy Leigh, Singh Rani H, Kennedy Mary Jane, Elsas Louis J

Abstract excerpt

Classical galactosemia is an autosomal recessive disorder resulting from deficient galactose-1-phosphateuridyl transferase (GALT) activity. Verbal dyspraxia is an unusual outcome in galactosemia. Here we validated a simplified breath test of total body galactose oxidation against genotype and evaluated five potential biochemical risk indicators for verbal dyspraxia in galactosemia: cumulative percentage dose...

Read the complete abstract on PubMed

Topics

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

Share to Sensitivity and Specificity
Share to Carbon Isotopes
Share to Erythrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Galactose

Share to Galactosemias

Share to Apraxias

Share to Breath Tests

Share to Carbon Dioxide

Source

Identifiers

PMID: 12595586
DOI: 10.1203/01.PDR.0000049666.19532.1B

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Verbal dyspraxia and galactosemia.PMID 12595586Read ↗

The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.Semantic proximity Read ↗

Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.Semantic proximity Read ↗

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.Semantic proximity Read ↗

Heritability of Long-Term Complications in Classic Galactosemia.Semantic proximity Read ↗

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.Semantic proximity Read ↗

Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.Semantic proximity Read ↗

GALT Deficiency GalactosemiaSemantic proximity Read ↗

The adult galactosemic phenotype.Semantic proximity Read ↗

Experimental galactose-1 phosphate uridylyltransferase (GALT) mRNA therapy improves motor-related phenotypes in a mouse model of Classic GalactosemiaSemantic proximity Read ↗

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.Semantic proximity Read ↗

The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.Semantic proximity Read ↗

A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.Semantic proximity Read ↗

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