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

Sweet and sour: an update on classic galactosemia

9 Mar 2017

Abstract excerpt

Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Enzymes and Metabolism
Share to Folate and B Vitamins Research
Share to Metabolism and Genetic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28281081
DOI: 10.1007/s10545-017-0029-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sweet and sour: an update on classic galactosemiaPMID 28281081Read ↗

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and TreatmentSemantic proximity Read ↗

Current and Future Treatments for Classic GalactosemiaSemantic proximity Read ↗

Hereditary galactosemia.Semantic proximity Read ↗

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Semantic proximity Read ↗

GALT Deficiency GalactosemiaSemantic proximity Read ↗

The Importance of Neonatal Screening for Galactosemia.Semantic proximity Read ↗

Reshaping the Treatment Landscape of a Galactose Metabolism DisorderSemantic proximity Read ↗

Galactosemia: The good, the bad, and the unknownSemantic proximity Read ↗

Galactose epimerase deficiency: lessons from the GalNet registry.Semantic proximity Read ↗

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

Neonatal Classic Galactosemia in North India: A 7-Year Cohort Study of Presentation, Genetics, and OutcomesSemantic proximity Read ↗

A case report of classic galactosemia with a GALT gene variant and a literature review.Semantic proximity Read ↗

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